Cellosaurus cell line PUMCHi006-A (CVCL

Cross-references
Cell line name	PUMCHi006-A
Accession	CVCL_A4EL
Resource Identification Initiative	To cite this cell line use: PUMCHi006-A (RRID:CVCL_A4EL)
Comments	From: Peking Union Medical College Hospital; Beijing; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:9603; PTGIS; Simple; p.Ala447Thr (c.1339G>A); dbSNP=rs146531327; Zygosity=Heterozygous (PubMed=33221675).
Disease	Heritable pulmonary arterial hypertension (NCIt: C121945) Heritable pulmonary arterial hypertension (ORDO: Orphanet_275777)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	39Y
Category	Induced pluripotent stem cell
Publications	PubMed=33221675; DOI=10.1016/j.scr.2020.102088 Zhu Y.-J., Zhang S.-J., Wu X.-H., Lian T.-Y., He Y.-Z., Zhang Z.-J., Lu D., Sun K., Wang H.-F., Jing Z.-C. Generation of an induced pluripotent stem cell line (PUMCHi006-A) derived from a patient with pulmonary arterial hypertension carrying heterozygous c.1339 G > A mutation in PTGIS gene. Stem Cell Res. 49:102088-102088(2020)
Cell line databases/resources	hPSCreg; PUMCHi006-A
Encyclopedic resources	Wikidata; Q105510616
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	5