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Cellosaurus GM03560 (CVCL_F606)

[Text version]
Cell line name GM03560
Accession CVCL_F606
Resource Identification Initiative To cite this cell line use: GM03560 (RRID:CVCL_F606)
Comments Population: African American.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • 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).
Disease Aspartylglycosaminuria (NCIt: C61273)
Aspartylglucosaminuria (ORDO: Orphanet_93)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Finite cell line
Publications

PubMed=1722323; DOI=10.1073/pnas.88.24.11222
Ikonen E., Aula P., Gron K., Tollersrud O., Halila R., Manninen T., Syvanen A.-C., Peltonen-Palotie L.
Spectrum of mutations in aspartylglucosaminuria.
Proc. Natl. Acad. Sci. U.S.A. 88:11222-11226(1991)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

Cross-references
Cell line collections (Providers) Coriell; GM03560
Cell line databases/resources CLO; CLO_0017265
Biological sample resources BioSample; SAMN00808451
Encyclopedic resources Wikidata; Q54838130
Entry history
Entry creation11-Feb-2013
Last entry update29-Jun-2023
Version number14