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Cellosaurus MHHi017-B (CVCL_ZJ19)

[Text version]
Cell line name MHHi017-B
Synonyms PCD-P2_DNAH5 clone 24; PCD-P2 clone 24; PCDP2C24
Accession CVCL_ZJ19
Resource Identification Initiative To cite this cell line use: MHHi017-B (RRID:CVCL_ZJ19)
Comments From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2950; DNAH5; Simple; p.Arg2639Ter (c.7915C>T); ClinVar=VCV000520775; Zygosity=Homozygous (PubMed=32470793).
Disease Primary ciliary dyskinesia 3 (NCIt: C172392)
Primary ciliary dyskinesia (ORDO: Orphanet_244)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_ZJ18 ! MHHi017-A
Sex of cell Female
Age at sampling 59Y
Category Induced pluripotent stem cell

PubMed=32470793; DOI=10.1016/j.scr.2020.101848
Drick N., Dahlmann J., Sahabian A., Haase A., Gohring G., Lachmann N., Ringshausen F.C., Welte T., Martin U., Olmer R.
Generation of two human induced pluripotent stem cell lines (MHHi017-A, MHHi017-B) from a patient with primary ciliary dyskinesia carrying a homozygous mutation (c.7915C > T [p.Arg2639*]) in the DNAH5 gene.
Stem Cell Res. 46:101848-101848(2020)

Cell line databases/resources hPSCreg; MHHi017-B
Encyclopedic resources Wikidata; Q98127238
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number5