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.
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页数：4
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