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Cellosaurus GM00521 (CVCL_CX25)

[Text version]
Cell line name GM00521
Synonyms GM-521
Accession CVCL_CX25
Resource Identification Initiative To cite this cell line use: GM00521 (RRID:CVCL_CX25)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:29670; GNPTAB; Simple; p.Thr284Leufs*5 (c.850delA) (1012delA); ClinVar=VCV000038434; Zygosity=Heterozygous (from familial inference of GM03066).
  • Mutation; HGNC; HGNC:29670; GNPTAB; Simple; p.Cys528Valfs*19 (c.1581delC) (1744delC); ClinVar=VCV000038414; Zygosity=Heterozygous (from familial inference of GM03066).
Disease I-cell disease (NCIt: C61270)
Mucolipidosis type II (ORDO: Orphanet_576)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_CX24 ! GM00087
Sex of cell Male
Age at sampling 2Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

Cross-references
Cell line collections (Providers) Coriell; GM00521 - Discontinued
Encyclopedic resources Wikidata; Q54836287
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number8