Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant

Jens Schuster; Maria Sobol; Ambrin Fatima; Ayda Khalfallah; Loora Laan; Britt Marie Anderlid; Ann Nordgren; Niklas Dahl

doi:10.1016/j.scr.2019.101518

Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant

Jens Schuster, Maria Sobol, Ambrin Fatima, Ayda Khalfallah, Loora Laan, Britt Marie Anderlid, Ann Nordgren, Niklas Dahl

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

6 Citations (Scopus)

Abstract

Mowat-Wilson syndrome (MWS) is a complex developmental syndrome caused by heterozygous mutations in the Zinc finger E-box-binding homeobox 2 gene (ZEB2). We generated the first human iPSC lines from primary fibroblasts of two siblings with MWS carrying a heterozygous ZEB2 stop mutation (c.1027C > T; p.Arg343*) using the Sendai virus reprogramming system. Both iPSC lines were free from reprogramming vector genes, expressed pluripotency markers and showed potential to differentiate into the three germ layers. Genetic analysis confirmed normal karyotypes and a preserved stop mutation. These iPSC lines will provide a useful resource to study altered neural lineage fate and neuropathophysiology in MWS.

Original language	English
Article number	101518
Journal	Stem Cell Research
Volume	39
DOIs	https://doi.org/10.1016/j.scr.2019.101518
Publication status	Published - Aug 2019
Externally published	Yes

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title = "Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant",

abstract = "Mowat-Wilson syndrome (MWS) is a complex developmental syndrome caused by heterozygous mutations in the Zinc finger E-box-binding homeobox 2 gene (ZEB2). We generated the first human iPSC lines from primary fibroblasts of two siblings with MWS carrying a heterozygous ZEB2 stop mutation (c.1027C > T; p.Arg343*) using the Sendai virus reprogramming system. Both iPSC lines were free from reprogramming vector genes, expressed pluripotency markers and showed potential to differentiate into the three germ layers. Genetic analysis confirmed normal karyotypes and a preserved stop mutation. These iPSC lines will provide a useful resource to study altered neural lineage fate and neuropathophysiology in MWS.",

author = "Jens Schuster and Maria Sobol and Ambrin Fatima and Ayda Khalfallah and Loora Laan and Anderlid, {Britt Marie} and Ann Nordgren and Niklas Dahl",

note = "Publisher Copyright: {\textcopyright} 2019 The Authors",

year = "2019",

month = aug,

doi = "10.1016/j.scr.2019.101518",

language = "English",

volume = "39",

journal = "Stem Cell Research",

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T1 - Mowat-Wilson syndrome

T2 - Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant

AU - Schuster, Jens

AU - Sobol, Maria

AU - Fatima, Ambrin

AU - Khalfallah, Ayda

AU - Laan, Loora

AU - Anderlid, Britt Marie

AU - Nordgren, Ann

AU - Dahl, Niklas

PY - 2019/8

Y1 - 2019/8

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AB - Mowat-Wilson syndrome (MWS) is a complex developmental syndrome caused by heterozygous mutations in the Zinc finger E-box-binding homeobox 2 gene (ZEB2). We generated the first human iPSC lines from primary fibroblasts of two siblings with MWS carrying a heterozygous ZEB2 stop mutation (c.1027C > T; p.Arg343*) using the Sendai virus reprogramming system. Both iPSC lines were free from reprogramming vector genes, expressed pluripotency markers and showed potential to differentiate into the three germ layers. Genetic analysis confirmed normal karyotypes and a preserved stop mutation. These iPSC lines will provide a useful resource to study altered neural lineage fate and neuropathophysiology in MWS.

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DO - 10.1016/j.scr.2019.101518

M3 - Article

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AN - SCOPUS:85069903218

SN - 1873-5061

VL - 39

JO - Stem Cell Research

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M1 - 101518

ER -

Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant

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