Home  |  Contact

Cellosaurus MHHi022-A (CVCL_A0YP)

[Text version]

Cell line name MHHi022-A
Synonyms PAH Pat. A iPS Clone11; PAH Pat.A Clone11
Accession CVCL_A0YP
Resource Identification Initiative To cite this cell line use: MHHi022-A (RRID:CVCL_A0YP)
Comments From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
Population: Caucasian.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 1078; BMPR2; Simple; p.His533Arg (c.1598A>G); ClinVar=VCV000425962; 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 Male
Age at sampling 38Y
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; MHHi022-A
Encyclopedic resources Wikidata; Q108820911
Entry history
Entry creation23-Sep-2021
Last entry update16-Dec-2021
Version number2