Cellosaurus cell line MHHi019-A (CVCL

Cross-references
Cell line name	MHHi019-A
Synonyms	PCD-P3 clone 17
Accession	CVCL_A4WJ
Resource Identification Initiative	To cite this cell line use: MHHi019-A (RRID:CVCL_A4WJ)
Comments	From: Hannover Medical School, LEBAO (MHH); Hannover; Germany. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:7853; NME5; Simple; p.Ile139Tyrfs*8 (c.415delA); ClinVar=VCV001705858; 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_A4WK ! MHHi019-B
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)
Cell line databases/resources	hPSCreg; MHHi019-A
Encyclopedic resources	Wikidata; Q107116365
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5