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Cellosaurus PUMCHi006-A (CVCL_A4EL)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; PUMCHi006-A
Encyclopedic resources Wikidata; Q105510616
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number4