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; 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: 29-06-23; Version: 5
//
RX   PubMed=32220772; DOI=10.1016/j.scr.2020.101744;
RA   Merkert S., Schubert M., Haase A., Janssens H.M., Scholte B.J.,
RA   Lachmann N., Gohring G., Martin U.;
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).
//