ID   HIHRSi001-A
AC   CVCL_UL52
SY   iPSC-GBA-1
DR   hPSCreg; HIHRSi001-A
DR   Wikidata; Q94208338
RX   PubMed=30606667;
CC   From: Hertie-Institut fur Klinische Hirnforschung; Tubingen; Germany.
CC   Population: Arab.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Homozygous (PubMed=30606667).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61268; Gaucher disease
DI   ORDO; Orphanet_355; Gaucher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y9M
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 10
//
RX   PubMed=30606667; DOI=10.1016/j.scr.2018.10.021;
RA   Nagel M., Reichbauer J., Bohringer J., Schelling Y., Krageloh-Mann I.,
RA   Schule R., Ulmer U.;
RT   "Generation of two iPSC lines derived from two unrelated patients with
RT   Gaucher disease.";
RL   Stem Cell Res. 35:101336-101336(2019).
//