ID   IBMS-iPSC-026-02
AC   CVCL_VL29
DR   BCRC; SC81088
DR   SKIP; SKIP005684
DR   Wikidata; Q94312995
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=SC81088).
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   67Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 10
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