Cellosaurus cell line LVPEIi004-A (CVCL

Cross-references
Cell line name	LVPEIi004-A
Synonyms	LVIP02-LC2-1
Accession	CVCL_D0HQ
Resource Identification Initiative	To cite this cell line use: LVPEIi004-A (RRID:CVCL_D0HQ)
Comments	From: LV Prasad Eye Institute; Banjara Hills; India. Population: Indian. Derived from site: In situ; Ear, skin, epidermis; UBERON=UBERON_0001459+UBERON_0001003. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:10294; RPE65; Simple; p.Lys216Ter (c.646A>T); ClinVar=VCV002949504; Zygosity=Homozygous (PubMed=38631180).
Disease	Leber congenital amaurosis (NCIt: C129075) Leber congenital amaurosis (ORDO: Orphanet_65)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	25Y
Category	Induced pluripotent stem cell
Publications	PubMed=38631180; DOI=10.1016/j.scr.2024.103413 Maddileti S., Mahato S., Agrawal T., Dave V.P., Naik M.N., Ali M.J., Kannabiran C., Jalali S., Jayandharan G.R., Mariappan I. Generation of two induced pluripotent stem cell lines (LVPEIi004-A and LVPEIi005-A) from probands with Leber congenital amaurosis 2 (LCA2) and harboring mutations in RPE65. Stem Cell Res. 77:103413-103413(2024)
Cell line databases/resources	hPSCreg; LVPEIi004-A
Biological sample resources	BioSamples; SAMEA114539332
Encyclopedic resources	Wikidata; Q123032986
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	4