ID   GM03560
AC   CVCL_F606
DR   CLO; CLO_0017265
DR   BioSample; SAMN00808451
DR   Coriell; GM03560
DR   Wikidata; Q54838130
RX   CelloPub=CLPUB00447;
RX   PubMed=1722323;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 318; AGA; Simple; c.940+1G>T (IVS8DS,G-T,+1) (c.807_940del134); ClinVar=VCV000000227; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=1722323).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C61273; Aspartylglycosaminuria
DI   ORDO; Orphanet_93; Aspartylglucosaminuria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 29-06-23; Version: 14
//
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=1722323; DOI=10.1073/pnas.88.24.11222;
RA   Ikonen E., Aula P., Gron K., Tollersrud O., Halila R., Manninen T.,
RA   Syvanen A.-C., Peltonen-Palotie L.;
RT   "Spectrum of mutations in aspartylglucosaminuria.";
RL   Proc. Natl. Acad. Sci. U.S.A. 88:11222-11226(1991).
//