Cellosaurus cell line FPAH-1-P1 (CVCL

Cross-references
Cell line name	FPAH-1-P1
Synonyms	FPAH family 1-Patient 1 iPSC
Accession	CVCL_A4MC
Resource Identification Initiative	To cite this cell line use: FPAH-1-P1 (RRID:CVCL_A4MC)
Comments	Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:1078; BMPR2; Simple; p.Cys118Trp (c.354T>G) (T354G); ClinVar=VCV000008799; Zygosity=Unspecified (PubMed=28017794).
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	Male
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=28017794; DOI=10.1016/j.stem.2016.08.019; PMCID=PMC5500296 Gu M.-X., Shao N.-Y., Sa S.-L., Li D., Termglinchan V., Ameen M., Karakikes I., Sosa G., Grubert F., Lee J., Cao A.-Q., Taylor S., Ma Y., Zhao Z.-X., Chappell J., Hamid R., Austin E.D., Gold J.D., Wu J.C., Snyder M.P., Rabinovitch M. Patient-specific iPSC-derived endothelial cells uncover pathways that protect against pulmonary hypertension in BMPR2 mutation carriers. Cell Stem Cell 20:490-504.e5(2017)
Cell line databases/resources	SKIP; SKIP002953
Encyclopedic resources	Wikidata; Q105506890
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	6