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Cellosaurus MHHi002-A-7 (CVCL_C4PD)

[Text version]
Cell line name MHHi002-A-7
Synonyms TT-corrCF#4_K37
Accession CVCL_C4PD
Resource Identification Initiative To cite this cell line use: MHHi002-A-7 (RRID:CVCL_C4PD)
Comments From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:21625; ANO1.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Cell type: Endothelial colony forming cell; CL=CL_0009090.
Sequence variations
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:1884; CFTR; Simple_corrected; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous; Note=By TALEN (from parent cell line).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_QX53 (MHHi002-A-1)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=36162332; DOI=10.1016/j.scr.2022.102918
Jaboreck M.-C., Luhmann J.L., Mielenz M., Stanke F., Gohring G., Martin U., Olmer R., Merkert S.
Generation of two TMEM16A knockout iPSC clones each from a healthy human iPSC line, from a cystic fibrosis patient specific line with p.Phe508del mutation and from the gene corrected iPSC line.
Stem Cell Res. 64:102918-102918(2022)

Cross-references
Cell line databases/resources hPSCreg; MHHi002-A-7
Encyclopedic resources Wikidata; Q116049791
Entry history
Entry creation15-Dec-2022
Last entry update19-Dec-2024
Version number4