Cellosaurus cell line IMEDEAi001-D (CVCL

Cross-references
Cell line name	IMEDEAi001-D
Synonyms	CFBhiPS3.12
Accession	CVCL_VD76
Resource Identification Initiative	To cite this cell line use: IMEDEAi001-D (RRID:CVCL_VD76)
Comments	From: Instituto Mediterraneo de Estudios Avanzados; Esporles; Spain. Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (PubMed=29554588).
Disease	Cystic fibrosis (NCIt: C2975) Cystic fibrosis (ORDO: Orphanet_586)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_VD73 ! IMEDEAi001-A CVCL_VD74 ! IMEDEAi001-B CVCL_VD75 ! IMEDEAi001-C CVCL_VD77 ! IMEDEAi001-E CVCL_VD78 ! IMEDEAi001-F CVCL_VD79 ! IMEDEAi001-G
Sex of cell	Female
Age at sampling	8Y
Category	Induced pluripotent stem cell
Publications	PubMed=29554588; DOI=10.1016/j.scr.2018.03.004 Aarne Fleischer, Ivan M. Lorenzo, Esther Palomino, Trond Aasen, Fernando Gomez, Miguel Servera, Victor Jose Asensio, Victor Galvez, Juan Carlos Izpisua Belmonte, Daniel Bachiller; Generation of two induced pluripotent stem cell (iPSC) lines from p.F508del cystic fibrosis patients. Stem Cell Res. 29:1-5(2018)
Cell line databases/resources	hPSCreg; IMEDEAi001-D
Encyclopedic resources	Wikidata; Q54897527
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	10