Cellosaurus cell line LVPEIi008-A (CVCL

Cross-references
Cell line name	LVPEIi008-A
Synonyms	LVIP01-SD1-2; ABCA4-/-C2
Accession	CVCL_D6MW
Resource Identification Initiative	To cite this cell line use: LVPEIi008-A (RRID:CVCL_D6MW)
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:34; ABCA4; Simple; p.Arg2030Ter (c.6088C>T); ClinVar=VCV000007907; Zygosity=Homozygous (PubMed=36306781).
Disease	Stargardt disease (NCIt: C85078) Stargardt disease (ORDO: Orphanet_827)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_D6MX ! LVPEIi008-B
Sex of cell	Male
Age at sampling	26Y
Category	Induced pluripotent stem cell
Publications	PubMed=36306781; DOI=10.1016/j.stemcr.2022.10.001; PMCID=PMC9669500 Farnoodian M., Bose D., Khristov V., Susaimanickam P.J., Maddileti S., Mariappan I., Abu-Asab M.S., Campos M., Villasmil R., Wan Q., Maminishkis A., McGaughey D., Barone F., Gundry R.L., Riordon D.R., Boheler K.R., Sharma R., Bharti K. Cell-autonomous lipid-handling defects in Stargardt iPSC-derived retinal pigment epithelium cells. Stem Cell Reports 17:2438-2450(2022)
Cell line databases/resources	hPSCreg; LVPEIi008-A
Biological sample resources	BioSamples; SAMEA115085113
Encyclopedic resources	Wikidata; Q127382717
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3