Cellosaurus cell line FPAH-1-UMC (CVCL

Cross-references
Cell line name	FPAH-1-UMC
Synonyms	FPAH-UMC-1; FPAH family-1 Unaffected Mutation Carrier
Accession	CVCL_A4MB
Resource Identification Initiative	To cite this cell line use: FPAH-1-UMC (RRID:CVCL_A4MB)
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).
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 Ming-Xia Gu, Ning-Yi Shao, Si-Lin Sa, Dan Li, Vittavat Termglinchan, Mohamed Ameen, Ioannis Karakikes, Gustavo Sosa, Fabian Grubert, Jaecheol Lee, Ai-Qin Cao ...Show all 21 authors... , Shalina Taylor, Yu Ma, Zhi-Xin Zhao, James Chappell, Rizwan Hamid, Eric D. Austin, Joseph D. Gold, Joseph C. Wu, Michael P. Snyder, Marlene Rabinovitch; Show fewer authors 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; SKIP002952
Encyclopedic resources	Wikidata; Q105506901
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	6