ID   GZHMCi003-A
AC   CVCL_A1WC
SY   iPS-63; IPS63
DR   hPSCreg; GZHMCi003-A
DR   Wikidata; Q105507501
RX   PubMed=33477036;
CC   From: The Third Affiliated Hospital of Guangzhou Medical College; Guangzhou; China.
CC   Sequence variation: Mutation; HGNC; 10472; RUNX2; Unexplicit; Ex3del; Zygosity=Heterozygous (PubMed=33477036).
CC   Derived from site: In situ; Umbilical cord blood; UBERON=UBERON_0012168.
DI   NCIt; C75020; Cleidocranial dysplasia
DI   ORDO; Orphanet_1452; Cleidocranial dysplasia
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
//
RX   PubMed=33477036; DOI=10.1016/j.scr.2021.102166;
RA   Chen M., Lin S.-M., Li N., Li Y.-T., Li Y.-F., Zhang L.-T.;
RT   "An induced pluripotent stem cell line (GZHMCi003-A) derived from a
RT   fetus with exon 3 heterozygous deletion in RUNX2 gene causing
RT   cleidocranial dysplasia.";
RL   Stem Cell Res. 51:102166-102166(2021).
//