当前位置： SCI文献检索 > Stem Cell Research期刊下所有文献 > Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation.

Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation.

Abstract：

:SLC26A4 is the second most frequent gene implicated in congenital hearing loss after GJB2 mutations. Here, we report the generation of induced pluripotent stem cells (iPSCs), from a patient who was carrying a homozygous c.919-2A>G variant in the SLC26A4 gene. This is the most common variant of SLC26A4 gene in the Chinese population and the second most prevalent one in other Asian countries. The established patient-derived iPSC displayed all the features of pluripotent stem cell markers and had the ability to differentiate into all of the three germ layers and possessed a normal karyotype.

journal_name

Stem Cell Res

journal_title

Stem cell research

authors

Cheng YF,Chan YH,Hu CJ,Lu YC,Saeki T,Hosoya M,Saegusa C,Fujioka M,Okano H,Weng SM,Hsu CJ,Chang KH,Wu CC

doi

10.1016/j.scr.2019.101524

subject

Has Abstract

pub_date

2019-10-01 00:00:00

pages

101524

eissn

1873-5061

issn

1876-7753

pii

S1873-5061(19)30154-0

journal_volume

40

pub_type

杂志文章

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