ID   GM17822
AC   CVCL_IL04
DR   CLO; CLO_0016514
DR   Coriell; GM17822
DR   Wikidata; Q54849247
CC   Sequence variation: Mutation; HGNC; HGNC:15894; PANK2; Simple; p.Phe311Profs*16 (c.927_933delTGTCTTT) (7-BP del); Zygosity=Homozygous (Coriell=GM17822).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84988; Pantothenate kinase-associated neurodegeneration
DI   ORDO; Orphanet_216873; Atypical pantothenate kinase-associated neurodegeneration
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   12Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 10
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