Cellosaurus cell line MHHi002-A-4 (CVCL

Cross-references
Cell line name	MHHi002-A-4
Synonyms	TT-CF#1_K50
Accession	CVCL_C4PA
Resource Identification Initiative	To cite this cell line use: MHHi002-A-4 (RRID:CVCL_C4PA)
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=Homozygous (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_QX52 (MHHi002-A)
Sex of cell	Male
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=36162332; DOI=10.1016/j.scr.2022.102918 Mark-Christian Jaboreck, Jonathan Lukas Luhmann, Mia Mielenz, Frauke Stanke, Gudrun Gohring, Ulrich Martin, Ruth Olmer, Sylvia Merkert; 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)
Cell line databases/resources	hPSCreg; MHHi002-A-4
Encyclopedic resources	Wikidata; Q116049788
Entry history
Entry creation	15-Dec-2022
Last entry update	19-Dec-2024
Version number	4