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Cellosaurus MHHi016-A (CVCL_ZJ20)

[Text version]
Cell line name MHHi016-A
Synonyms PCD-P1_CCNO clone 5; PCD-P1 clone 5; PCDP1C05
Accession CVCL_ZJ20
Resource Identification Initiative To cite this cell line use: MHHi016-A (RRID:CVCL_ZJ20)
Comments From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 18576; CCNO; Simple; p.Gly85Cysfs*11 (c.248_252dupCAGGG); ClinVar=VCV000139599; Zygosity=Homozygous (PubMed=32464346).
Disease Primary ciliary dyskinesia 29 (NCIt: C172393)
Primary ciliary dyskinesia (ORDO: Orphanet_244)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_ZJ21 ! MHHi016-B
Sex of cell Male
Age at sampling 53Y
Category Induced pluripotent stem cell
Publications

PubMed=32464346; DOI=10.1016/j.scr.2020.101850
Dahlmann J., Sahabian A., Drick N., Haase A., Gohring G., Lachmann N., Ringshausen F.C., Welte T., Martin U., Olmer R.
Generation of two hiPSC lines (MHHi016-A, MHHi016-B) from a primary ciliary dyskinesia patient carrying a homozygous 5 bp duplication (c.248_252dup (p.Gly85Cysfs*11)) in exon 1 of the CCNO gene.
Stem Cell Res. 46:101850-101850(2020)

Cross-references
Cell line databases/resources hPSCreg; MHHi016-A
Encyclopedic resources Wikidata; Q98127235
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number5