ID   MHHi002-A-5
AC   CVCL_C4PB
SY   TT-CF#1_K54
DR   hPSCreg; MHHi002-A-5
DR   Wikidata; Q116049789
RX   PubMed=36162332;
CC   From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
CC   Knockout cell: Method=CRISPR/Cas9; HGNC; 21625; ANO1.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (from parent cell line).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
CC   Cell type: Endothelial colony forming cell; CL=CL_0009090.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_QX52 ! MHHi002-A
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 29-06-23; Version: 3
//
RX   PubMed=36162332; DOI=10.1016/j.scr.2022.102918;
RA   Jaboreck M.-C., Luhmann J.L., Mielenz M., Stanke F., Gohring G.,
RA   Martin U., Olmer R., Merkert S.;
RT   "Generation of two TMEM16A knockout iPSC clones each from a healthy
RT   human iPSC line, from a cystic fibrosis patient specific line with
RT   p.Phe508del mutation and from the gene corrected iPSC line.";
RL   Stem Cell Res. 64:102918-102918(2022).
//