ID   IBMS-iPSC-025-03
AC   CVCL_QY29
DR   BCRC; SC81052
DR   BCRC; SC81053
DR   SKIP; SKIP005648
DR   SKIP; SKIP005649
DR   Wikidata; Q54897196
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; HGNC:4296; GLA; Simple; c.640-801G>A (c.639+919G>A) (IVS4+919G>A); ClinVar=VCV000010768; Zygosity=Hemizygous (BCRC=SC81052).
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)
SX   Male
AG   66Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 10
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