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.
Völkner C, Liedtke M, Petters J, Lukas J, Murua Escobar H, Knuebel G, Bullerdiek J, Holzmann C, Hermann A, Frech MJ; US Food and Drug Administration Interviewees; Robyn Bent R, Bocell F, Garrard L, Johnson LL, Knoble N, Reasner D, Tarver M, Weinfurt K, Mullin T.
Völkner C, et al. Among authors: knuebel g.
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
Free article.