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Cellosaurus GZHMCi003-A (CVCL_A1WC)

[Text version]

Cell line name GZHMCi003-A
Synonyms iPS-63; IPS63
Accession CVCL_A1WC
Resource Identification Initiative To cite this cell line use: GZHMCi003-A (RRID:CVCL_A1WC)
Comments From: The Third Affiliated Hospital of Guangzhou Medical College; Guangzhou; China.
Derived from sampling site: Umbilical cord blood.
Sequence variations Mutation; HGNC; 10472; RUNX2; Unexplicit; Ex3del; Zygosity=Heterozygous (PubMed=33477036).
Disease Cleidocranial dysplasia (NCIt: C75020)
Cleidocranial dysplasia (ORDO: Orphanet_1452)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Fetus
Category Induced pluripotent stem cell
Publications

PubMed=33477036; DOI=10.1016/j.scr.2021.102166
Chen M., Lin S.M., Li N., Li Y.-T., Li Y.-F., Zhang L.-T.
An induced pluripotent stem cell line (GZHMCi003-A) derived from a fetus with exon 3 heterozygous deletion in RUNX2 gene causing cleidocranial dysplasia.
Stem Cell Res. 51:102166-102166(2021)

Cross-references
Cell line databases/resources hPSCreg; GZHMCi003-A
Encyclopedic resources Wikidata; Q105507501
Entry history
Entry creation12-Jan-2021
Last entry update20-May-2021
Version number2