ID   MHHi017-B
AC   CVCL_ZJ19
SY   PCD-P2_DNAH5 clone 24; PCD-P2 clone 24; PCDP2C24
DR   hPSCreg; MHHi017-B
DR   Wikidata; Q98127238
RX   PubMed=32470793;
CC   From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
CC   Sequence variation: Mutation; HGNC; 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_ZJ18 ! MHHi017-A
SX   Female
AG   59Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 6
//
RX   PubMed=32470793; DOI=10.1016/j.scr.2020.101848;
RA   Drick, Nora
RA   Dahlmann, Julia
RA   Sahabian, Anais
RA   Haase, Alexandra
RA   Gohring, Gudrun
RA   Lachmann, Nico
RA   Ringshausen, Felix C.
RA   Welte, Tobias
RA   Martin, Ulrich
RA   Olmer, Ruth
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).
//