Cellosaurus cell line MHHi017-A (CVCL

Cross-references
Cell line name	MHHi017-A
Synonyms	PCD-P2_DNAH5 clone 22; PCD-P2 clone 22; PCDP2C22
Accession	CVCL_ZJ18
Resource Identification Initiative	To cite this cell line use: MHHi017-A (RRID:CVCL_ZJ18)
Comments	From: Hannover Medical School, LEBAO (MHH); Hannover; Germany. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; 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_ZJ19 ! MHHi017-B
Sex of cell	Female
Age at sampling	59Y
Category	Induced pluripotent stem cell
Publications	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-A
Encyclopedic resources	Wikidata; Q98127237
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	6