Cellosaurus cell line BMPR2 LCL 723 (CVCL

Cross-references
Cell line name	BMPR2 LCL 723
Accession	CVCL_IN02
Resource Identification Initiative	To cite this cell line use: BMPR2 LCL 723 (RRID:CVCL_IN02)
Comments	Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Omics: Transcriptome analysis by microarray. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:1078; BMPR2; Simple; p.Cys118Trp (c.354T>G) (T354G); ClinVar=VCV000008799; Zygosity=Unspecified (PubMed=18823550).
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	35Y
Category	Transformed cell line
Publications	PubMed=18823550; DOI=10.1186/1755-8794-1-45; PMCID=PMC2561034 West J., Cogan J.D., Geraci M., Robinson L., Newman J., Phillips J.A. 3rd, Lane K.B., Meyrick B.O., Loyd J.E. Gene expression in BMPR2 mutation carriers with and without evidence of pulmonary arterial hypertension suggests pathways relevant to disease penetrance. BMC Med. Genomics 1:45.1-45.11(2008)
Encyclopedic resources	Wikidata; Q54797648
Gene expression databases	GEO; GSM271865
Entry history
Entry creation	01-Dec-2016
Last entry update	19-Dec-2024
Version number	8