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Establishment of an iPSC line (JTUi002-A) from a patient with Waardenburg syndrome caused by a SOX10 mutation and carrying a GJB2 mutation.

Stem cell research - 1 Apr 2020

Wang Pengjun, Wang Jingjing, Xing Yazhi, Wang Hui, Yu Dongzhen, Feng Yanmei, Wu Hongmin, Wu Yaqin, Chen Zhengnong, Wang Jiping, Shi Haibo

Abstract excerpt

Waardenburg syndrome (WS) is an inherited auditory-pigmentary syndrome characterized by deafness and pigment abnormalities. Here, we generated an induced pluripotent stem cell (iPSC) line using episomal plasmid vectors from the fibroblasts of an 8-year-old boy affected with WS, caused by a novel mutation in the SOX10 gene (NM_006941.3: c.937_947del; p.Tyr313Argfs*85), with a concurrent hotspot mutation in the...

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PMID: 32199281
DOI: 10.1016/j.scr.2020.101756

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Establishment of an iPSC line (JTUi002-A) from a patient with Waardenburg syndrome caused by a SOX10 mutation and carrying a GJB2 mutation.PMID 32199281Read ↗

Establishment of an iPSC line (CPGHi005-A) from a patient with Waardenburg syndrome carrying a heterozygous SVA-F retrotransposon insertion into SOX10.Semantic proximity Read ↗

Establishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type Ⅱ caused by a MITF mutation.Semantic proximity Read ↗

Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment.Semantic proximity Read ↗

Establishment of an iPSC line (CSUXHi004-A) from a patient with Waardenburg syndrome type I caused by a PAX3 splice mutation.Semantic proximity Read ↗

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Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers.Semantic proximity Read ↗

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