ID   GM29361
AC   CVCL_F0Z2
DR   Coriell; GM29361
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3151; ECHS1; Simple; p.Ala173Val (c.518C>T); ClinVar=VCV000377257; Zygosity=Heterozygous (Coriell=GM29361).
CC   Sequence variation: Mutation; HGNC; HGNC:3151; ECHS1; Simple; p.Gly175Ser (c.523G>A); ClinVar=VCV001300726; Zygosity=Heterozygous (Coriell=GM29361).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84596; Beta-mannosidosis
DI   ORDO; Orphanet_118; Beta-mannosidosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F0Z0 ! GM29359
SX   Female
AG   14Y
CA   Transformed cell line
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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