ID   IMOi001-A
AC   CVCL_E7TX
SY   STGD PBiPS1-SV4F-1
DR   BioSamples; SAMEA117685024
DR   hPSCreg; IMOi001-A
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Instituto de Microcirurgia Ocular, Grupo Miranza; Barcelona; Spain.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Arg212Cys (c.634C>T); ClinVar=VCV000007898; Zygosity=Heterozygous (hPSCreg=IMOi001-A).
CC   Sequence variation: Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Arg1129Leu (c.3386G>T); ClinVar=VCV000099224; Zygosity=Heterozygous (hPSCreg=IMOi001-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85078; Stargardt disease
DI   ORDO; Orphanet_827; Stargardt disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
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