ID   MHHi017-A
AC   CVCL_ZJ18
SY   PCD-P2_DNAH5 clone 22; PCD-P2 clone 22; PCDP2C22
DR   hPSCreg; MHHi017-A
DR   Wikidata; Q98127237
RX   PubMed=32470793;
CC   From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
CC   Sequence variation: Mutation; HGNC; 2950; DNAH5; Simple; p.Arg2639Ter (c.7915C>T); ClinVar=VCV000520775; Zygosity=Homozygous (PubMed=32470793).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C172392; Primary ciliary dyskinesia 3
DI   ORDO; Orphanet_244; Primary ciliary dyskinesia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZJ19 ! MHHi017-B
SX   Female
AG   59Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 5
//
RX   PubMed=32470793; DOI=10.1016/j.scr.2020.101848;
RA   Drick N., Dahlmann J., Sahabian A., Haase A., Gohring G., Lachmann N.,
RA   Ringshausen F.C., Welte T., Martin U., Olmer R.;
RT   "Generation of two human induced pluripotent stem cell lines
RT   (MHHi017-A, MHHi017-B) from a patient with primary ciliary dyskinesia
RT   carrying a homozygous mutation (c.7915C > T [p.Arg2639*]) in the DNAH5
RT   gene.";
RL   Stem Cell Res. 46:101848-101848(2020).
//