Generation and characterization of two iPSC lines carrying heterozygous or homozygous nonsense mutation in PROM1 gene from a single family.
Generation and characterization of two iPSC lines carrying heterozygous or homozygous nonsense mutation in PROM1 gene from a single family.
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DOI：
10.1016/j.scr.2022.102913
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发表时间：
2022-09
影响因子：
1.2
通讯作者：
P. Xu;Fuying Guo;Bingbing Xie;X. Zhong
中科院分区：
文献类型：
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作者：
P. Xu;Fuying Guo;Bingbing Xie;X. Zhong
PROM1-related retinal dystrophy (PROM1-RD) is a group of hereditary retinal disorder characterized by the progressive damage of the photoreceptors. We generated and identified two induced pluripotent stem cell (iPSC) lines carrying homozygous or heterozygous nonsense mutation c.619G > T (p.E207X) inPROM1gene from a patient with PROM1-RD and his healthy mother, respectively. Both iPSC lines maintained the typical stem cell morphology, genomic stability and pluripotency. These iPSC lines have great potential to elucidate the disease mechanisms and develop the feasible treatments of PROM1-RD.
