ID   MHHi018-A
AC   CVCL_YX91
SY   CF19 iPSC9; CF19_iPSCK9
DR   hPSCreg; MHHi018-A
DR   Wikidata; Q95989481
RX   PubMed=32220772;
CC   From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Asn1303Lys (c.3909C>G); ClinVar=VCV000007136; Zygosity=Homozygous (PubMed=32220772).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   25Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 6
//
RX   PubMed=32220772; DOI=10.1016/j.scr.2020.101744;
RA   Merkert, Sylvia
RA   Schubert, Madline
RA   Haase, Alexandra
RA   Janssens, Hettie M.
RA   Scholte, Bob J.
RA   Lachmann, Nico
RA   Gohring, Gudrun
RA   Martin, Ulrich
RT   "Generation of an induced pluripotent stem cell line (MHHi018-A) from
RT   a patient with cystic fibrosis carrying p.Asn1303Lys (N1303K)
RT   mutation.";
RL   Stem Cell Res. 44:101744-101744(2020).
//