ID   LVPEIi006-B
AC   CVCL_D6MZ
SY   LVIP04-LC12-1
DR   hPSCreg; LVPEIi006-B
DR   Wikidata; Q127382713
CC   From: LV Prasad Eye Institute; Banjara Hills; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:19689; RD3; Simple; p.Arg99Argfs*1 (c.296+1G>A); ClinVar=VCV000013121; Zygosity=Homozygous; Note=Splice donor mutation (hPSCreg=LVPEIi006-B).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129075; Leber congenital amaurosis
DI   ORDO; Orphanet_65; Leber congenital amaurosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D6M4 ! LVPEIi006-A
SX   Male
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
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