Cellosaurus cell line MHHi016-A (CVCL

Cross-references
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; 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 Julia Dahlmann, Anais Sahabian, Nora Drick, Alexandra Haase, Gudrun Gohring, Nico Lachmann, Felix C. Ringshausen, Tobias Welte, Ulrich Martin, Ruth Olmer; 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)
Cell line databases/resources	hPSCreg; MHHi016-A
Encyclopedic resources	Wikidata; Q98127235
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	6