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Cellosaurus CMCi006-A-1 (CVCL_C3QY)

[Text version]
Cell line name CMCi006-A-1
Synonyms CMC-Fb001(A4GALT-KO)
Accession CVCL_C3QY
Resource Identification Initiative To cite this cell line use: CMCi006-A-1 (RRID:CVCL_C3QY)
Comments From: The Catholic University of Korea; Seoul; South Korea.
Population: Korean.
Knockout cell: Method=CRISPR/Cas9; HGNC; 18149; A4GALT.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4296; GLA; Simple; p.Leu324Trpfs*24 (c.969delC); ClinVar=VCV001050825; Zygosity=Hemizygous (from parent cell line).
Disease Fabry disease (NCIt: C84701)
Fabry disease (ORDO: Orphanet_324)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A4EQ (CMCi006-A)
Sex of cell Male
Age at sampling 32Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; CMCi006-A-1
Biological sample resources BioSamples; SAMEA111327964
Encyclopedic resources Wikidata; Q116048774
Entry history
Entry creation15-Dec-2022
Last entry update29-Jun-2023
Version number3