ID   GM29051
AC   CVCL_D3AG
DR   Coriell; GM29051
DR   Wikidata; Q127380948
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6831; MANBA; Simple; p.Asp191_Trp192insTer (c.563_572dup) (p.Trp192Ter); ClinVar=VCV000001677; Zygosity=Heterozygous (Coriell=GM29051).
CC   Sequence variation: Mutation; HGNC; HGNC:6831; MANBA; Simple; p.Arg500His (c.1499G>A); ClinVar=VCV001515408; Zygosity=Heterozygous (Coriell=GM29051).
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)
SX   Male
AG   12Y
CA   Finite cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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