ID   GM02057
AC   CVCL_X448
SY   GM-2057
DR   CLO; CLO_0032533
DR   BioSample; SAMN00807442
DR   Coriell; GM02057
DR   Wikidata; Q54837276
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=1904874;
CC   Population: Caucasian; Finnish.
CC   Sequence variation: Mutation; HGNC; HGNC:318; AGA; Simple; p.Arg161Gln (c.482G>A); ClinVar=VCV000809707; Zygosity=Heterozygous (PubMed=1904874).
CC   Sequence variation: Mutation; HGNC; HGNC:318; AGA; Simple; p.Cys163Ser (c.488G>C); ClinVar=VCV000000219; Zygosity=Homozygous (PubMed=1904874).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C61273; Aspartylglycosaminuria
DI   ORDO; Orphanet_93; Aspartylglucosaminuria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   27Y
CA   Finite cell line
DT   Created: 05-09-14; Last updated: 19-12-24; Version: 16
//
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).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=1904874; DOI=10.1016/S0021-9258(18)99071-X;
RA   Fisher K.J., Aronson N.N. Jr.;
RT   "Characterization of the mutation responsible for
RT   aspartylglucosaminuria in three Finnish patients. Amino acid
RT   substitution Cys163->Ser abolishes the activity of lysosomal
RT   glycosylasparaginase and its conversion into subunits.";
RL   J. Biol. Chem. 266:12105-12113(1991).
//