ID   HIHRSi002-A
AC   CVCL_UL53
SY   iPSC-GBA-2
DR   hPSCreg; HIHRSi002-A
DR   Wikidata; Q94208343
RX   PubMed=30606667;
CC   From: Hertie-Institut fur Klinische Hirnforschung; Tubingen; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Trp223Arg (c.667T>C) (W184R); ClinVar=VCV000093457; Zygosity=Heterozygous (PubMed=30606667).
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (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   4Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 11
//
RX   PubMed=30606667; DOI=10.1016/j.scr.2018.10.021;
RA   Nagel, Maike
RA   Reichbauer, Jennifer
RA   Bohringer, Judith
RA   Schelling, Yvonne
RA   Krageloh-Mann, Ingeborg
RA   Schule, Rebecca
RA   Ulmer, Ulrike
RT   "Generation of two iPSC lines derived from two unrelated patients with
RT   Gaucher disease.";
RL   Stem Cell Res. 35:101336-101336(2019).
//