ID   MHHi002-A-7
AC   CVCL_C4PD
SY   TT-corrCF#4_K37
DR   hPSCreg; MHHi002-A-7
DR   Wikidata; Q116049791
RX   PubMed=36162332;
CC   From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
CC   Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:21625; ANO1.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple_corrected; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous; Note=By TALEN (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_QX53 ! MHHi002-A-1
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 19-12-24; Version: 4
//
RX   PubMed=36162332; DOI=10.1016/j.scr.2022.102918;
RA   Jaboreck, Mark-Christian
RA   Luhmann, Jonathan Lukas
RA   Mielenz, Mia
RA   Stanke, Frauke
RA   Gohring, Gudrun
RA   Martin, Ulrich
RA   Olmer, Ruth
RA   Merkert, Sylvia
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).
//