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Cellosaurus IMOi001-A (CVCL_E7TX)

[Text version]
Cell line name IMOi001-A
Synonyms STGD PBiPS1-SV4F-1
Accession CVCL_E7TX
Resource Identification Initiative To cite this cell line use: IMOi001-A (RRID:CVCL_E7TX)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Instituto de Microcirurgia Ocular, Grupo Miranza; Barcelona; Spain.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Arg212Cys (c.634C>T); ClinVar=VCV000007898; Zygosity=Heterozygous (hPSCreg=IMOi001-A).
  • Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Arg1129Leu (c.3386G>T); ClinVar=VCV000099224; Zygosity=Heterozygous (hPSCreg=IMOi001-A).
Disease Stargardt disease (NCIt: C85078)
Stargardt disease (ORDO: Orphanet_827)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; IMOi001-A
Biological sample resources BioSamples; SAMEA117685024
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1