Cellosaurus cell line ZJUCHi002-A (CVCL

Cross-references
Cell line name	ZJUCHi002-A
Accession	CVCL_WG63
Resource Identification Initiative	To cite this cell line use: ZJUCHi002-A (RRID:CVCL_WG63)
Comments	From: Children's Hospital, Zhejiang University School of Medicine; Hangzhou; China. Population: Chinese; Han. Derived from site: In situ; Urine; UBERON=UBERON_0001088. Cell type: Epithelial cell of kidney; CL=CL_0002518.
Sequence variations	Mutation; HGNC; HGNC:16877; MFN2; Simple; p.Pro251Leu (c.752C>T); ClinVar=VCV000637945; Zygosity=Heterozygous (PubMed=30807887).
Disease	Charcot-Marie-Tooth disease type 2A2A (NCIt: C150646) Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (ORDO: Orphanet_99947)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	8Y
Category	Induced pluripotent stem cell
Publications	PubMed=30807887; DOI=10.1016/j.scr.2019.101411 Xu J.-K., Fu Y., Xia W.-C., He J., Zou Y., Ruan W.-C., Lou Q., Li Y., Pan J.-W., Li H.-F., Chen W. Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C>T in MFN2. Stem Cell Res. 36:101411-101411(2019)
Cell line databases/resources	hPSCreg; ZJUCHi002-A
Encyclopedic resources	Wikidata; Q98136541
Entry history
Entry creation	24-May-2019
Last entry update	19-Dec-2024
Version number	8