Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene

Thomas Klein; Katharina Günther; Chee Keong Kwok; Frank Edenhofer; Nurcan Üçeyler

doi:10.1016/j.scr.2018.08.009

Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene

Thomas Klein
, Katharina Günther (Co-author)
, Chee Keong Kwok
, Frank Edenhofer
, Nurcan Üçeyler

Research output: Contribution to journal › Case report › peer-review

Abstract

Human dermal fibroblasts (HDF) were isolated from the skin punch biopsy of a 25-year-old woman with Fabry disease (FD), carrying a heterozygous c.708 G > C missense mutation in the alpha-galactosidase A gene. HDF were reprogrammed to induced pluripotent stem cells (iPSC) using synthetic mRNA, preventing the alteration of the genome and retaining the original genotype. FD-W236C-iPSC (UKWNLi001-A) showed typical human embryonic stem cell (hESC)-like morphology, expressed all analyzed pluripotency-associated markers, could be differentiated into cells from all three germ layers, and demonstrated a normal female karyotype. We provide a novel patient-specific cell line, allowing further insights into the pathophysiology of FD. Resource table.

Original language	English
Pages (from-to)	222-226
Number of pages	5
Journal	Stem Cell Research
Volume	31
DOIs	https://doi.org/10.1016/j.scr.2018.08.009
Publication status	Published - Aug 2018

Keywords

Adult
Exons
Female
Fibroblasts/metabolism
Heterozygote
Humans
Induced Pluripotent Stem Cells/metabolism
Mutation, Missense
Skin/metabolism
alpha-Galactosidase/metabolism

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Klein, T., Günther, K., Kwok, C. K., Edenhofer, F., & Üçeyler, N. (2018). Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene. Stem Cell Research, 31, 222-226. https://doi.org/10.1016/j.scr.2018.08.009

Klein, Thomas ; Günther, Katharina ; Kwok, Chee Keong et al. / Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene. In: Stem Cell Research. 2018 ; Vol. 31. pp. 222-226.

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title = "Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene",

abstract = "Human dermal fibroblasts (HDF) were isolated from the skin punch biopsy of a 25-year-old woman with Fabry disease (FD), carrying a heterozygous c.708 G > C missense mutation in the alpha-galactosidase A gene. HDF were reprogrammed to induced pluripotent stem cells (iPSC) using synthetic mRNA, preventing the alteration of the genome and retaining the original genotype. FD-W236C-iPSC (UKWNLi001-A) showed typical human embryonic stem cell (hESC)-like morphology, expressed all analyzed pluripotency-associated markers, could be differentiated into cells from all three germ layers, and demonstrated a normal female karyotype. We provide a novel patient-specific cell line, allowing further insights into the pathophysiology of FD. Resource table.",

keywords = "Adult, Exons, Female, Fibroblasts/metabolism, Heterozygote, Humans, Induced Pluripotent Stem Cells/metabolism, Mutation, Missense, Skin/metabolism, alpha-Galactosidase/metabolism",

author = "Thomas Klein and Katharina G{\"u}nther and Kwok, \{Chee Keong\} and Frank Edenhofer and Nurcan {\"U}{\c c}eyler",

year = "2018",

month = aug,

doi = "10.1016/j.scr.2018.08.009",

language = "English",

volume = "31",

pages = "222--226",

journal = "Stem Cell Research",

issn = "1873-5061",

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Klein, T, Günther, K, Kwok, CK, Edenhofer, F & Üçeyler, N 2018, 'Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene', Stem Cell Research, vol. 31, pp. 222-226. https://doi.org/10.1016/j.scr.2018.08.009

Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene. / Klein, Thomas; Günther, Katharina (Co-author); Kwok, Chee Keong et al.
In: Stem Cell Research, Vol. 31, 08.2018, p. 222-226.

Research output: Contribution to journal › Case report › peer-review

TY - JOUR

T1 - Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene

AU - Klein, Thomas

AU - Günther, Katharina

AU - Kwok, Chee Keong

AU - Edenhofer, Frank

AU - Üçeyler, Nurcan

PY - 2018/8

Y1 - 2018/8

N2 - Human dermal fibroblasts (HDF) were isolated from the skin punch biopsy of a 25-year-old woman with Fabry disease (FD), carrying a heterozygous c.708 G > C missense mutation in the alpha-galactosidase A gene. HDF were reprogrammed to induced pluripotent stem cells (iPSC) using synthetic mRNA, preventing the alteration of the genome and retaining the original genotype. FD-W236C-iPSC (UKWNLi001-A) showed typical human embryonic stem cell (hESC)-like morphology, expressed all analyzed pluripotency-associated markers, could be differentiated into cells from all three germ layers, and demonstrated a normal female karyotype. We provide a novel patient-specific cell line, allowing further insights into the pathophysiology of FD. Resource table.

AB - Human dermal fibroblasts (HDF) were isolated from the skin punch biopsy of a 25-year-old woman with Fabry disease (FD), carrying a heterozygous c.708 G > C missense mutation in the alpha-galactosidase A gene. HDF were reprogrammed to induced pluripotent stem cells (iPSC) using synthetic mRNA, preventing the alteration of the genome and retaining the original genotype. FD-W236C-iPSC (UKWNLi001-A) showed typical human embryonic stem cell (hESC)-like morphology, expressed all analyzed pluripotency-associated markers, could be differentiated into cells from all three germ layers, and demonstrated a normal female karyotype. We provide a novel patient-specific cell line, allowing further insights into the pathophysiology of FD. Resource table.

KW - Adult

KW - Exons

KW - Female

KW - Fibroblasts/metabolism

KW - Heterozygote

KW - Humans

KW - Induced Pluripotent Stem Cells/metabolism

KW - Mutation, Missense

KW - Skin/metabolism

KW - alpha-Galactosidase/metabolism

U2 - 10.1016/j.scr.2018.08.009

DO - 10.1016/j.scr.2018.08.009

M3 - Case report

C2 - 30130681

SN - 1873-5061

VL - 31

SP - 222

EP - 226

JO - Stem Cell Research

JF - Stem Cell Research

ER -

Klein T, Günther K, Kwok CK, Edenhofer F, Üçeyler N. Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene. Stem Cell Research. 2018 Aug;31:222-226. doi: 10.1016/j.scr.2018.08.009

Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene

Abstract

Keywords

Access to Document

Fingerprint

Cite this

Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene