Cellosaurus cell line MHHi024-A (CVCL

Cross-references
Cell line name	MHHi024-A
Synonyms	PAH Pat. D iPS Clone16; PAH Pat.D Clone16
Accession	CVCL_A0YR
Resource Identification Initiative	To cite this cell line use: MHHi024-A (RRID:CVCL_A0YR)
Comments	From: Hannover Medical School, LEBAO (MHH); Hannover; Germany. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:1078; BMPR2; Simple; p.Arg491Trp (c.1471C>T); ClinVar=VCV000008802; Zygosity=Heterozygous (PubMed=34388490).
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	5Y
Category	Induced pluripotent stem cell
Publications	PubMed=34388490; DOI=10.1016/j.scr.2021.102488 Usman A., Haase A., Merkert S., Gohring G., Hansmann G., Gall H., Schermuly R., Martin U., Olmer R. Generation of pulmonary arterial hypertension patient-specific induced pluripotent stem cell lines from three unrelated patients with a heterozygous missense mutation in exon 12, a heterozygous in-frame deletion in exon 3 and a missense mutation in exon 11 of the BMPR2 gene. Stem Cell Res. 55:102488-102488(2021)
Cell line databases/resources	hPSCreg; MHHi024-A
Encyclopedic resources	Wikidata; Q108820914
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	5