ID   MHHi019-B
AC   CVCL_A4WK
SY   PCD-P3 clone 23; PCD-P3_NME5 Clone 23
DR   hPSCreg; MHHi019-B
DR   Wikidata; Q107116367
RX   PubMed=32950024;
CC   From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
CC   Sequence variation: Mutation; HGNC; 7853; NME5; Simple; p.Ile139Tyrfs*8 (c.415delA); ClinVar=VCV001705858; Zygosity=Homozygous (PubMed=32950024).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84638; Ciliary motility defect
DI   ORDO; Orphanet_244; Primary ciliary dyskinesia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4WJ ! MHHi019-A
SX   Female
AG   22Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=32950024; DOI=10.1016/j.scr.2020.101988;
RA   Sahabian A., von Schlehdorn L., Drick N., Pink I., Dahlmann J.,
RA   Haase A., Gohring G., Welte T., Martin U., Ringshausen F.C.,
RA   Olmer R.;
RT   "Generation of two hiPSC clones (MHHi019-A, MHHi019-B) from a primary
RT   ciliary dyskinesia patient carrying a homozygous deletion in the NME5
RT   gene (c.415delA (p.Ile139Tyrfs*8)).";
RL   Stem Cell Res. 48:101988-101988(2020).
//