ID   BMPR2 LCL 264
AC   CVCL_IN00
DR   GEO; GSM271866
DR   Wikidata; Q54797645
RX   PubMed=18823550;
CC   Sequence variation: Mutation; HGNC; HGNC:1078; BMPR2; Simple; p.Cys118Trp (c.354T>G) (T354G); ClinVar=VCV000008799; Zygosity=Unspecified (PubMed=18823550).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: Transcriptome analysis by microarray.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C121945; Heritable pulmonary arterial hypertension
DI   ORDO; Orphanet_275777; Heritable pulmonary arterial hypertension
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   17Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 8
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RX   PubMed=18823550; DOI=10.1186/1755-8794-1-45; PMCID=PMC2561034;
RA   West J., Cogan J.D., Geraci M., Robinson L., Newman J.,
RA   Phillips J.A. 3rd, Lane K.B., Meyrick B.O., Loyd J.E.;
RT   "Gene expression in BMPR2 mutation carriers with and without evidence
RT   of pulmonary arterial hypertension suggests pathways relevant to
RT   disease penetrance.";
RL   BMC Med. Genomics 1:45.1-45.11(2008).
//