Cellosaurus cell line SCTCi014-A-1 (CVCL

Cross-references
Cell line name	SCTCi014-A-1
Synonyms	IPS17-00056 clone O5; IPS17-00056 Crispr clone O5
Accession	CVCL_C0FT
Resource Identification Initiative	To cite this cell line use: SCTCi014-A-1 (RRID:CVCL_C0FT)
Comments	From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:5394; CFI; Simple_corrected; p.Gly119Arg (c.355G>A); ClinVar=VCV000066014; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=35526386).
Disease	Age-related macular degeneration-13 (NCIt: C187704)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_B5TA (SCTCi014-A)
Sex of cell	Male
Age at sampling	84Y
Category	Induced pluripotent stem cell
Publications	PubMed=35526386; DOI=10.1016/j.scr.2022.102797 Sarah de Jong, Louet Koolen, Irene Vazquez-Dominguez, Anita de Breuk, Silvia Albert, Carel B. Hoyng, Suresh Katti, Anneke I. den Hollander, Alejandro Garanto; Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene. Stem Cell Res. 62:102797-102797(2022)
Cell line databases/resources	hPSCreg; SCTCi014-A-1
Biological sample resources	BioSamples; SAMEA11293804
Encyclopedic resources	Wikidata; Q112930352
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5