ID   AKOSi006-A
AC   CVCL_A4DG
SY   iPS GM18453-S4; iPS 006-A
DR   hPSCreg; AKOSi006-A
DR   Wikidata; Q105506395
RX   PubMed=33099109;
CC   From: Albrecht-Kossel Institute for Neuroregeneration, University Medicine Rostock; Rostock; Germany.
CC   Sequence variation: Mutation; HGNC; 7897; NPC1; Simple; p.Ile1061Thr (c.3182T>C); ClinVar=VCV000002967; Zygosity=Homozygous (PubMed=33099109).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126864; Niemann-Pick disease, type C1
DI   ORDO; Orphanet_646; Niemann-Pick disease type C
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_DA78 ! GM18453
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33099109; DOI=10.1016/j.scr.2020.102056;
RA   Volkner C., Liedtke M., Petters J., Huth K., Knuebel G.,
RA   Murua Escobar H., Bullerdiek J., Lukas J., Hermann A., Frech M.J.;
RT   "Generation of an iPSC line (AKOSi006-A) from fibroblasts of an NPC1
RT   patient, carrying the homozygous mutation p.I1061T (c.3182 T > C) and
RT   a control iPSC line (AKOSi007-A) using a non-integrating Sendai virus
RT   system.";
RL   Stem Cell Res. 49:102056-102056(2020).
//