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Cellosaurus STAN030i-46-1 (CVCL_EM02)

[Text version]
Cell line name STAN030i-46-1
Accession CVCL_EM02
Resource Identification Initiative To cite this cell line use: STAN030i-46-1 (RRID:CVCL_EM02)
Comments Part of: Next Generation Genetic Association studies (Next Gen) program cell lines.
From: Rabinovitch, Marlene; Stanford University; Stanford; USA.
Population: African American.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 1078; BMPR2; Simple; p.Arg491Trp (c.1471C>T); ClinVar=VCV000008802; Zygosity=Heterozygous (WiCell=stan030i-46-1).
Disease Primary pulmonary hypertension-1 (NCIt: C174219)
Heritable pulmonary arterial hypertension (ORDO: Orphanet_275777)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_EM03 ! STAN031i-46-2
Sex of cell Female
Age at sampling 33Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) WiCell; stan030i-46-1
Cell line databases/resources SKIP; SKIP005162
Encyclopedic resources Wikidata; Q54955848
Entry history
Entry creation26-Sep-2016
Last entry update10-Sep-2024
Version number16