ID   GM23154
AC   CVCL_DB20
DR   Coriell; GM23154
DR   Wikidata; Q54852910
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[196]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM23154).
CC   Sequence variation: Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Arg404Gln (c.1211G>A); ClinVar=VCV000188794; Zygosity=Heterozygous (Coriell=GM23154).
CC   Sequence variation: Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Pro1007Ala (c.3019C>G); ClinVar=VCV000002966; Zygosity=Heterozygous (Coriell=GM23154).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84718; Friedreich ataxia
DI   NCIt; C126864; Niemann-Pick disease, type C1
DI   ORDO; Orphanet_95; Friedreich ataxia
DI   ORDO; Orphanet_646; Niemann-Pick disease type C
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   12Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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