ID   MHHi016-B
AC   CVCL_ZJ21
SY   PCD-P1_CCNO clone 21; PCD-P1 clone 21; PCDP1C21
DR   hPSCreg; MHHi016-B
DR   Wikidata; Q98127236
RX   PubMed=32464346;
CC   From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:18576; CCNO; Simple; p.Gly85Cysfs*11 (c.248_252dupCAGGG); ClinVar=VCV000139599; Zygosity=Homozygous (PubMed=32464346).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C172393; Primary ciliary dyskinesia 29
DI   ORDO; Orphanet_244; Primary ciliary dyskinesia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZJ20 ! MHHi016-A
SX   Male
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=32464346; DOI=10.1016/j.scr.2020.101850;
RA   Dahlmann J., Sahabian A., Drick N., Haase A., Gohring G., Lachmann N.,
RA   Ringshausen F.C., Welte T., Martin U., Olmer R.;
RT   "Generation of two hiPSC lines (MHHi016-A, MHHi016-B) from a primary
RT   ciliary dyskinesia patient carrying a homozygous 5 bp duplication
RT   (c.248_252dup (p.Gly85Cysfs*11)) in exon 1 of the CCNO gene.";
RL   Stem Cell Res. 46:101850-101850(2020).
//