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Generation of an iPSC line (AKOSi004-A) from fibroblasts of a female adult NPC1 patient, carrying the compound heterozygous mutation p.Val1023Serfs*15/p.Gly992Arg and of an iPSC line (AKOSi005-A) from a female adult control individual.
Stem Cell Res. 2020 Dec 15;50:102127. doi: 10.1016/j.scr.2020.102127. Online ahead of print.
Stem Cell Res. 2020.
PMID: 33360098
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