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Cellosaurus LVPEIi008-A (CVCL_D6MW)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; LVPEIi008-A
Biological sample resources BioSamples; SAMEA115085113
Encyclopedic resources Wikidata; Q127382717
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2