Home  |  Contact

Cellosaurus GZHMCi004-A (CVCL_A1WD)

[Text version]
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; 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
Li N., Lin S.-M., Li Y.-T., Sun J.-M., Zhang L.-T., Chen M.
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)

Cross-references
Cell line databases/resources hPSCreg; GZHMCi004-A
Biological sample resources BioSamples; SAMEA8268546
Encyclopedic resources Wikidata; Q105507504
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number4