Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene

Mazzotta C; Serpieri V; Orsi A; Cavan S; Rossi E; Stanzial F; Valente E M

doi:10.1016/j.scr.2023.103267

Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene

Mazzotta C, Serpieri V, Orsi A, Cavan S, Rossi E, Stanzial F, Valente E M

Krankenhaus Bozen

University of Pavia and Fondazione

Research output: Contribution to journal › Original Article › peer-review

Abstract

We generated iPSC line using skin fibroblasts obtained from a female patient affected by Joubert syndrome, caused by two compound heterozygous variants (c.143G > A; p.Gly48Glu and c.1784 T > G; p.Leu595Ter) in CPLANE1. We used Sendai-virus-based technique for reprogramming and then we applied karyotype analysis, to exclude possible acquired big rearrangements. We verified the presence of the same STR profile as fibroblasts, the stem cell state (by immunofluorescence and qPCR) and, finally, the pluripotency state (by in vitro trilineage differentiation).

Original language	English
Pages (from-to)	103267
Journal	Stem Cell Research
Volume	74
DOIs	https://doi.org/10.1016/j.scr.2023.103267
Publication status	Published - Feb 2024

Keywords

Eye Abnormalities/genetics
Cell Differentiation/genetics
Induced Pluripotent Stem Cells
Abnormalities, Multiple
Mutation/genetics
Retina/abnormalities
Female
Humans
Cerebellum/abnormalities
Kidney Diseases, Cystic

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10.1016/j.scr.2023.103267

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title = "Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene",

abstract = "We generated iPSC line using skin fibroblasts obtained from a female patient affected by Joubert syndrome, caused by two compound heterozygous variants (c.143G > A; p.Gly48Glu and c.1784 T > G; p.Leu595Ter) in CPLANE1. We used Sendai-virus-based technique for reprogramming and then we applied karyotype analysis, to exclude possible acquired big rearrangements. We verified the presence of the same STR profile as fibroblasts, the stem cell state (by immunofluorescence and qPCR) and, finally, the pluripotency state (by in vitro trilineage differentiation).",

keywords = "Eye Abnormalities/genetics, Cell Differentiation/genetics, Induced Pluripotent Stem Cells, Abnormalities, Multiple, Mutation/genetics, Retina/abnormalities, Female, Humans, Cerebellum/abnormalities, Kidney Diseases, Cystic",

author = "Mazzotta C and Serpieri V and Orsi A and Cavan S and Rossi E and Stanzial F and \{E M\}, Valente",

note = "Regional Hospital of Bolzano, Bolzano, Italy",

year = "2024",

month = feb,

doi = "10.1016/j.scr.2023.103267",

language = "English",

volume = "74",

pages = "103267",

journal = "Stem Cell Research",

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TY - JOUR

T1 - Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene

AU - C, Mazzotta

AU - V, Serpieri

AU - A, Orsi

AU - S, Cavan

AU - E, Rossi

AU - F, Stanzial

AU - E M, Valente

N1 - Regional Hospital of Bolzano, Bolzano, Italy

PY - 2024/2

Y1 - 2024/2

N2 - We generated iPSC line using skin fibroblasts obtained from a female patient affected by Joubert syndrome, caused by two compound heterozygous variants (c.143G > A; p.Gly48Glu and c.1784 T > G; p.Leu595Ter) in CPLANE1. We used Sendai-virus-based technique for reprogramming and then we applied karyotype analysis, to exclude possible acquired big rearrangements. We verified the presence of the same STR profile as fibroblasts, the stem cell state (by immunofluorescence and qPCR) and, finally, the pluripotency state (by in vitro trilineage differentiation).

AB - We generated iPSC line using skin fibroblasts obtained from a female patient affected by Joubert syndrome, caused by two compound heterozygous variants (c.143G > A; p.Gly48Glu and c.1784 T > G; p.Leu595Ter) in CPLANE1. We used Sendai-virus-based technique for reprogramming and then we applied karyotype analysis, to exclude possible acquired big rearrangements. We verified the presence of the same STR profile as fibroblasts, the stem cell state (by immunofluorescence and qPCR) and, finally, the pluripotency state (by in vitro trilineage differentiation).

KW - Eye Abnormalities/genetics

KW - Cell Differentiation/genetics

KW - Induced Pluripotent Stem Cells

KW - Abnormalities, Multiple

KW - Mutation/genetics

KW - Retina/abnormalities

KW - Female

KW - Humans

KW - Cerebellum/abnormalities

KW - Kidney Diseases, Cystic

U2 - 10.1016/j.scr.2023.103267

DO - 10.1016/j.scr.2023.103267

M3 - Original Article

C2 - 38100914

SN - 1873-5061

VL - 74

SP - 103267

JO - Stem Cell Research

JF - Stem Cell Research

ER -

Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene

Abstract

Keywords

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