Cellosaurus cell line SCTCi016-A (CVCL

Cross-references
Cell line name	SCTCi016-A
Synonyms	IPS18-00092 clone 1
Accession	CVCL_B5T7
Resource Identification Initiative	To cite this cell line use: SCTCi016-A (RRID:CVCL_B5T7)
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:10294; RPE65; Simple; c.11+5G>A; ClinVar=VCV000098825; Zygosity=Homozygous (PubMed=35121194).
Disease	Leber congenital amaurosis (NCIt: C129075) Leber congenital amaurosis (ORDO: Orphanet_65)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	15Y
Category	Induced pluripotent stem cell
Publications	PubMed=35121194; DOI=10.1016/j.scr.2022.102689 Vazquez-Dominguez I., Kwint M., Kroes H.Y., Albert S., O'Gorman L., Gilissen C., Cremers F.P.M., Collin R.W.J., Roosing S., Garanto A. Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65. Stem Cell Res. 60:102689-102689(2022)
Cell line databases/resources	hPSCreg; SCTCi016-A
Biological sample resources	BioSamples; SAMEA11324664
Encyclopedic resources	Wikidata; Q112044521
Entry history
Entry creation	17-Mar-2022
Last entry update	19-Dec-2024
Version number	5