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: Transcriptomics; 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 James West, Joy D. Cogan, Mark Geraci, Linda Robinson, John Newman, John A. Phillips 3rd, Kirk B. Lane, Barbara O. Meyrick, James E. Loyd; 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	10-Apr-2025
Version number	9