Cellosaurus cell line BMPR2 LCL 172 (CVCL

Cross-references
Cell line name	BMPR2 LCL 172
Accession	CVCL_IM96
Resource Identification Initiative	To cite this cell line use: BMPR2 LCL 172 (RRID:CVCL_IM96)
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).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	65Y
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; Q54797640
Gene expression databases	GEO; GSM271848
Entry history
Entry creation	01-Dec-2016
Last entry update	10-Apr-2025
Version number	8