Cellosaurus cell line GZHMCi004-A (CVCL

Cross-references
Cell line name	GZHMCi004-A
Synonyms	iPS80-1; IPS80-1
Accession	CVCL_A1WD
Resource Identification Initiative	To cite this cell line use: GZHMCi004-A (RRID:CVCL_A1WD)
Comments	From: The Third Affiliated Hospital of Guangzhou Medical College; Guangzhou; China. Derived from site: In situ; Umbilical cord blood; UBERON=UBERON_0012168.
Sequence variations	Mutation; HGNC; HGNC:3690; FGFR3; Simple; p.Gly380Arg (c.1138G>A); ClinVar=VCV000016327; Zygosity=Heterozygous (PubMed=33848795).
Disease	Achondroplasia (NCIt: C34345) Achondroplasia (ORDO: Orphanet_15)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	Fetus
Category	Induced pluripotent stem cell
Publications	PubMed=33848795; DOI=10.1016/j.scr.2021.102322 Nan Li, Sheng-Mou Lin, Ying-Ting Li, Ji-Mei Sun, Lu-Ting Zhang, Min Chen; An induced pluripotent stem cell line (GZHMCi004-A) derived from a fetus with heterozygous G380R mutation in FGFR3 gene causing achondroplasia. Stem Cell Res. 53:102322-102322(2021)
Cell line databases/resources	hPSCreg; GZHMCi004-A
Biological sample resources	BioSamples; SAMEA8268546
Encyclopedic resources	Wikidata; Q105507504
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	5