ID   IBMS-iPSC-047-03
AC   CVCL_XD54
DR   BCRC; SC81112
DR   SKIP; SKIP005716
DR   Wikidata; Q94313072
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; HGNC:6239; KCND3; Simple; p.Phe227del (c.677_679TCT[1]) (c.679_681delTTC); ClinVar=VCV000066061; Zygosity=Unspecified (BCRC=SC81112).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C163756; Spinocerebellar ataxia type 19/22
DI   ORDO; Orphanet_98772; Spinocerebellar ataxia type 19/22
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 10
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