Cellosaurus cell line SMBCi004-A (CVCL

Cross-references
Cell line name	SMBCi004-A
Accession	CVCL_ZL97
Resource Identification Initiative	To cite this cell line use: SMBCi004-A (RRID:CVCL_ZL97)
Comments	From: Shandong Medical Biotechnological Center; Jinan; China. Population: Chinese; Han. Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations	Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Homozygous (PubMed=32977293).
Disease	Gaucher disease (NCIt: C61268) Gaucher disease (ORDO: Orphanet_355)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	8Y
Category	Induced pluripotent stem cell
Publications	PubMed=32977293; DOI=10.1016/j.scr.2020.101989 Qing-Yang Zhao, Ya-Zhou Cui, Jing Wang, Liang Shi, Zi-Juan Qi, Jing Luan, Yu-Ang Zhang, Xiao-Yan Zhou, Jin-Xiang Han; Development of a human iPSC line (SMBCi004-A) from a patient with Gaucher disease. Stem Cell Res. 48:101989-101989(2020)
Cell line databases/resources	hPSCreg; SMBCi004-A
Encyclopedic resources	Wikidata; Q98132703
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7