ID   AKOSi004-A
AC   CVCL_A4DI
SY   iPS DD-NPC1-12; iPS 004-A
DR   hPSCreg; AKOSi004-A
DR   Wikidata; Q105506389
RX   PubMed=33360098;
CC   From: Albrecht-Kossel Institute for Neuroregeneration, University Medicine Rostock; Rostock; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7897; NPC1; Simple; p.Gly992Arg (c.2974G>C); ClinVar=VCV000002969; Zygosity=Heterozygous (PubMed=33360098).
CC   Sequence variation: Mutation; HGNC; 7897; NPC1; Simple; p.Val1023Serfs*15 (c.3066_3073delinsT); Zygosity=Heterozygous (PubMed=33360098).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C126864; Niemann-Pick disease, type C1
DI   ORDO; Orphanet_646; Niemann-Pick disease type C
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   33Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33360098; DOI=10.1016/j.scr.2020.102127;
RA   Volkner C., Liedtke M., Petters J., Lukas J., Murua Escobar H.,
RA   Knuebel G., Bullerdiek J., Holzmann C., Hermann A., Frech M.J.;
RT   "Generation of an iPSC line (AKOSi004-A) from fibroblasts of a female
RT   adult NPC1 patient, carrying the compound heterozygous mutation
RT   p.Val1023Serfs*15/p.Gly992Arg and of an iPSC line (AKOSi005-A) from a
RT   female adult control individual.";
RL   Stem Cell Res. 50:102127-102127(2021).
//