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Cellosaurus LVPEIi006-B (CVCL_D6MZ)

[Text version]
Cell line name LVPEIi006-B
Synonyms LVIP04-LC12-1
Accession CVCL_D6MZ
Resource Identification Initiative To cite this cell line use: LVPEIi006-B (RRID:CVCL_D6MZ)
Comments From: LV Prasad Eye Institute; Banjara Hills; India.
Population: Indian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:19689; RD3; Simple; p.Arg99Argfs*1 (c.296+1G>A); ClinVar=VCV000013121; Zygosity=Homozygous; Note=Splice donor mutation (hPSCreg=LVPEIi006-B).
Disease Leber congenital amaurosis (NCIt: C129075)
Leber congenital amaurosis (ORDO: Orphanet_65)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D6M4 ! LVPEIi006-A
Sex of cell Male
Age at sampling 27Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; LVPEIi006-B
Encyclopedic resources Wikidata; Q127382713
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3