ID   GM29359
AC   CVCL_F0Z0
DR   Coriell; GM29359
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6831; MANBA; Simple; p.Val514Cysfs*10 (c.1540_1541del); ClinVar=VCV000542166; Zygosity=Heterozygous (Coriell=GM29359).
CC   Sequence variation: Mutation; HGNC; HGNC:6831; MANBA; Simple; p.Thr785Leufs*27 (c.2352_2356del); ClinVar=VCV000542165; Zygosity=Heterozygous (Coriell=GM29359).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84596; Beta-mannosidosis
DI   ORDO; Orphanet_118; Beta-mannosidosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F0Z2 ! GM29361
SX   Female
AG   14Y
CA   Finite cell line
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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