ID   GM29052
AC   CVCL_D6WG
DR   Coriell; GM29052
CC   Population: Caucasian; Italian and Mexican.
CC   Sequence variation: Mutation; HGNC; HGNC:6831; MANBA; Simple; p.Arg182Gly (c.545G>A); Zygosity=Homozygous (Coriell=GM29052).
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   8Y
CA   Finite cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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