ID   GZHMCi004-A
AC   CVCL_A1WD
SY   iPS80-1; IPS80-1
DR   BioSamples; SAMEA8268546
DR   hPSCreg; GZHMCi004-A
DR   Wikidata; Q105507504
RX   PubMed=33848795;
CC   From: The Third Affiliated Hospital of Guangzhou Medical College; Guangzhou; China.
CC   Sequence variation: Mutation; HGNC; 3690; FGFR3; Simple; p.Gly380Arg (c.1138G>A); ClinVar=VCV000016327; Zygosity=Heterozygous (PubMed=33848795).
CC   Derived from site: In situ; Umbilical cord blood; UBERON=UBERON_0012168.
DI   NCIt; C34345; Achondroplasia
DI   ORDO; Orphanet_15; Achondroplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Fetus
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 4
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RX   PubMed=33848795; DOI=10.1016/j.scr.2021.102322;
RA   Li N., Lin S.-M., Li Y.-T., Sun J.-M., Zhang L.-T., Chen M.;
RT   "An induced pluripotent stem cell line (GZHMCi004-A) derived from a
RT   fetus with heterozygous G380R mutation in FGFR3 gene causing
RT   achondroplasia.";
RL   Stem Cell Res. 53:102322-102322(2021).
//