ID   STAN031i-46-2
AC   CVCL_EM03
DR   SKIP; SKIP005163
DR   WiCell; stan031i-46-2
DR   Wikidata; Q54955849
CC   Part of: Next Generation Genetic Association studies (Next Gen) program cell lines.
CC   From: Rabinovitch, Marlene; Stanford University; Stanford; USA.
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:1078; BMPR2; Simple; p.Arg491Trp (c.1471C>T); ClinVar=VCV000008802; Zygosity=Heterozygous (WiCell=stan031i-46-2).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C174219; Primary pulmonary hypertension-1
DI   ORDO; Orphanet_275777; Heritable pulmonary arterial hypertension
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_EM02 ! STAN030i-46-1
SX   Female
AG   33Y
CA   Induced pluripotent stem cell
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 17
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