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Cellosaurus LVPEIi008-B (CVCL_D6MX)

[Text version]
Cell line name LVPEIi008-B
Synonyms LVIP04-SD1-2
Accession CVCL_D6MX
Resource Identification Initiative To cite this cell line use: LVPEIi008-B (RRID:CVCL_D6MX)
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=38615588).
Disease Stargardt disease (NCIt: C85078)
Stargardt disease (ORDO: Orphanet_827)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D6MW ! LVPEIi008-A
Sex of cell Male
Age at sampling 26Y
Category Induced pluripotent stem cell
Publications

PubMed=38615588; DOI=10.1016/j.scr.2024.103418
Pidishetty D., Maddileti S., Mahato S., Agrawal T., Pulimamidi V.K., Naik M.N., Kannabiran C., Jalali S., Mariappan I.
Generation of two induced pluripotent stem cell lines (LVPEIi007-B, LVPEIi008-B) from patients harboring homozygous mutation in ABCA4 (c.6088C>T) using non-integrative Sendai virus-based approach.
Stem Cell Res. 77:103418-103418(2024)

Cross-references
Cell line databases/resources hPSCreg; LVPEIi008-B
Biological sample resources BioSamples; SAMEA115172670
Encyclopedic resources Wikidata; Q127382718
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2