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Cellosaurus MHHi024-A (CVCL_A0YR)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; MHHi024-A
Encyclopedic resources Wikidata; Q108820914
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number4