ID   IBMS-iPSC-024-03
AC   CVCL_VL28
DR   BCRC; SC81087
DR   SKIP; SKIP005683
DR   Wikidata; Q94312983
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; HGNC:4296; GLA; Simple; p.Glu398Aspfs*6 (c.1194delA); Zygosity=Hemizygous (BCRC=SC81087).
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   28Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 10
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