Cellosaurus cell line ZJUCHi001-A (CVCL

Cross-references
Cell line name	ZJUCHi001-A
Accession	CVCL_VT14
Resource Identification Initiative	To cite this cell line use: ZJUCHi001-A (RRID:CVCL_VT14)
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:7225; MPZ; Simple; p.Arg98Cys (c.292C>T); ClinVar=VCV000014175; Zygosity=Heterozygous (PubMed=30785048).
Disease	Charcot-Marie-Tooth disease type 1B (NCIt: C118782) Charcot-Marie-Tooth disease type 1B (ORDO: Orphanet_101082)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	2Y
Category	Induced pluripotent stem cell
Publications	PubMed=30785048; DOI=10.1016/j.scr.2019.101407 Jia-Ke Xu, Yan-Peng Wang, Jing He, Wei-Chun Xia, Yan Zou, Wen-Cong Ruan, Qi Lou, Ying Li, Hai-Feng Li, Wei Chen; Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B) iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ. Stem Cell Res. 35:101407-101407(2019)
Cell line databases/resources	hPSCreg; ZJUCHi001-A
Encyclopedic resources	Wikidata; Q98136539
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	9