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 Nora Drick, Julia Dahlmann, Anais Sahabian, Alexandra Haase, Gudrun Gohring, Nico Lachmann, Felix C. Ringshausen, Tobias Welte, Ulrich Martin, Ruth Olmer; 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