ID   C17 NKX2-1-GFP
AC   CVCL_D3D6
SY   C17 NG; C17 NKX2.1-GFP; iPS17 NKX2.1-GFP
DR   Wikidata; Q127380360
WW   https://stemcellbank.bu.edu/Catalog/Item/Details/824
CC   From: Boston University School of Medicine; Boston; USA.
CC   Population: Caucasian.
CC   Characteristics: Using TALEN a eGFP-pA-loxP-PGKp-PuroR-pA-loxP was inserted at the NKX2-1 translational start site.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Ile507del (c.1516_1518ATC[1]) (c.1519_1521delATC); ClinVar=VCV000007106; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (from parent cell line).
CC   Genetic integration: Method=TALEN; Gene=FPbase; R9NL8; eGFP (Note=Enhanced GFP).
CC   Genetic integration: Method=TALEN; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_WN85 ! CF iPSC clone 17
SX   Male
AG   17Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 10-09-24; Version: 2
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