Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene

被引：3

作者：

Domingo-Prim, Judit ^{[1
,2
]}

Riera, Marina ^{[1
,2
]}

Abad-Morales, Victor ^{[1
,2
]}

Ruiz-Nogales, Sheila ^{[1
,2
]}

Corcostegui, Borja ^{[1
,3
]}

Pomares, Esther ^{[1
,2
]}

机构：

[1] Fundacio Recerca Inst Microcirurgia Ocular, Barcelona, Spain

[2] IMO, Dept Genet, Barcelona, Spain

[3] IMO, Dept Retina, Barcelona, Spain

来源：

STEM CELL RESEARCH | 2019年 / 40卷

关键词：

D O I：

10.1016/j.scr.2019.101570

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

Best disease, also known as Best vitelliform macular dystrophy, is an autosomal dominant form of macular degeneration. Here, we have generated an induced pluripotent stem cell (iPSC) line derived from a Best disease patient carrying a new dominant mutation in the BEST1 gene. Skin fibroblasts were reprogrammed to iPSCs by the non-integrative Sendai-virus method. The iPSC line has been characterized preserving the BEST1 mutation, expressing the pluripotency markers and being capable to differentiate to endoderm, mesoderm and ectoderm in vitro.

引用

页数：4

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