ID   GM02817
AC   CVCL_AB45
DR   CLO; CLO_0012754
DR   BioSample; SAMN00808131
DR   Coriell; GM02817
DR   Wikidata; Q54837704
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6826; MAN2B1; Simple; p.Arg750Trp (c.2248C>T); ClinVar=VCV000001687; Zygosity=Homozygous (Coriell=GM02817).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84548; Alpha-mannosidosis
DI   ORDO; Orphanet_61; Alpha-mannosidosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   6Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 02-05-24; Version: 13
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//