ID   CMCi006-A-1
AC   CVCL_C3QY
SY   CMC-Fb001(A4GALT-KO)
DR   BioSamples; SAMEA111327964
DR   hPSCreg; CMCi006-A-1
DR   Wikidata; Q116048774
CC   From: The Catholic University of Korea; Seoul; South Korea.
CC   Population: Korean.
CC   Knockout cell: Method=CRISPR/Cas9; HGNC; 18149; A4GALT.
CC   Sequence variation: Mutation; HGNC; 4296; GLA; Simple; p.Leu324Trpfs*24 (c.969delC); ClinVar=VCV001050825; Zygosity=Hemizygous (from parent cell line).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84701; Fabry disease
DI   ORDO; Orphanet_324; Fabry disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A4EQ ! CMCi006-A
SX   Male
AG   32Y
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 29-06-23; Version: 3
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