ID   GM25291
AC   CVCL_HQ16
DR   Coriell; GM25291
DR   Wikidata; Q54853866
CC   Sequence variation: Mutation; HGNC; HGNC:11049; SLC6A3; Simple; p.Tyr470Ser (c.1408_1409delinsAG); ClinVar=VCV001404765; Zygosity=Homozygous (Coriell=GM25291).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129866; Dopamine transporter deficiency syndrome
DI   ORDO; Orphanet_238455; Infantile dystonia-parkinsonism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 10
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