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Cellosaurus MHHi019-A (CVCL_A4WJ)

[Text version]
Cell line name MHHi019-A
Synonyms PCD-P3 clone 17
Accession CVCL_A4WJ
Resource Identification Initiative To cite this cell line use: MHHi019-A (RRID:CVCL_A4WJ)
Comments From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7853; NME5; Simple; p.Ile139Tyrfs*8 (c.415delA); ClinVar=VCV001705858; Zygosity=Homozygous (PubMed=32950024).
Disease Ciliary motility defect (NCIt: C84638)
Primary ciliary dyskinesia (ORDO: Orphanet_244)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A4WK ! MHHi019-B
Sex of cell Female
Age at sampling 22Y
Category Induced pluripotent stem cell
Publications

PubMed=32950024; DOI=10.1016/j.scr.2020.101988
Sahabian A., von Schlehdorn L., Drick N., Pink I., Dahlmann J., Haase A., Gohring G., Welte T., Martin U., Ringshausen F.C., Olmer R.
Generation of two hiPSC clones (MHHi019-A, MHHi019-B) from a primary ciliary dyskinesia patient carrying a homozygous deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8)).
Stem Cell Res. 48:101988-101988(2020)

Cross-references
Cell line databases/resources hPSCreg; MHHi019-A
Encyclopedic resources Wikidata; Q107116365
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4