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Cellosaurus MHHi019-B (CVCL_A4WK)

[Text version]

Cell line name MHHi019-B
Synonyms PCD-P3 clone 23; PCD-P3_NME5 Clone 23
Accession CVCL_A4WK
Resource Identification Initiative To cite this cell line use: MHHi019-B (RRID:CVCL_A4WK)
Comments From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 7853; NME5; Simple; p.Ile139Tyrfs*8 (c.415delA); 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_A4WJ ! MHHi019-A
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-B
Other Wikidata; Q107116367
Entry history
Entry creation20-May-2021
Last entry update23-Sep-2021
Version number2