ID   SMBCi004-A
AC   CVCL_ZL97
DR   hPSCreg; SMBCi004-A
DR   Wikidata; Q98132703
RX   PubMed=32977293;
CC   From: Shandong Medical Biotechnological Center; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Homozygous (PubMed=32977293).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C61268; Gaucher disease
DI   ORDO; Orphanet_355; Gaucher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32977293; DOI=10.1016/j.scr.2020.101989;
RA   Zhao Q.-Y., Cui Y.-Z., Wang J., Shi L., Qi Z.-J., Luan J., Zhang Y.,
RA   Zhou X.-Y., Han J.-X.;
RT   "Development of a human iPSC line (SMBCi004-A) from a patient with
RT   Gaucher disease.";
RL   Stem Cell Res. 48:101989-101989(2020).
//