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Cellosaurus LVPEIi006-A (CVCL_D6M4)

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Cell line name LVPEIi006-A
Synonyms LVIP02-LC12-1
Accession CVCL_D6M4
Resource Identification Initiative To cite this cell line use: LVPEIi006-A (RRID:CVCL_D6M4)
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 (PubMed=38479331).
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_D6MZ ! LVPEIi006-B
Sex of cell Male
Age at sampling 27Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=38479331

Markers:
AmelogeninX,Y
CSF1PO10,13
D5S81810,11
D7S8209,10
D13S3179,10
D16S5398,12
TH016,7
TPOX8,11
vWA13,16

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Publications

PubMed=38479331; DOI=10.1016/j.scr.2024.103380
Sudipta Mahato, Savitri Maddileti, Milind N. Naik, Chitra Kannabiran, Subhadra Jalali, Indumathi Mariappan;
Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3.
Stem Cell Res. 77:103380-103380(2024)

Cross-references
Cell line databases/resources hPSCreg; LVPEIi006-A
Biological sample resources BioSamples; SAMEA115157827
Encyclopedic resources Wikidata; Q127382712
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3