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Cellosaurus GM00060 (CVCL_0P15)

[Text version]
Cell line name GM00060
Synonyms GM-60; GM00060A; CD#60
Accession CVCL_0P15
Resource Identification Initiative To cite this cell line use: GM00060 (RRID:CVCL_0P15)
Comments Derived from site: In situ; Brain; UBERON=UBERON_0000955.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:756; ASPA; Simple; p.Gly176Asp (c.527C>A); Zygosity=Heterozygous (PubMed=33304759).
  • Mutation; HGNC; HGNC:756; ASPA; Simple; p.Ala305Glu (c.914C>A); ClinVar=VCV000002607; Zygosity=Heterozygous (PubMed=33304759).
Disease Canavan disease (NCIt: C84611)
Canavan disease (ORDO: Orphanet_141)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_A5RL (CD#60 ipsC)
Sex of cell Male
Age at sampling 2Y
Category Finite cell line
STR profile Source(s): PubMed=33304759

Markers:
AmelogeninX,Y
CSF1PO11
D5S81811,12
D7S82011
D13S3178,11
D16S53912
D21S1130,31.2
TH016,9.3
TPOX8,11
vWA14,18

Run an STR similarity search on this 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)

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

PubMed=33304759; DOI=10.1002/advs.202002155; PMCID=PMC7709977
Feng L.-Z., Chao J.-F., Tian E., Li L., Ye P., Zhang M., Chen X.-W., Cui Q., Sun G.-H., Zhou T., Felix G., Qin Y., Li W.-D., Meza E.D., Klein J., Ghoda L.Y., Hu W.-D., Luo Y.-L., Dang W., Hsu D., Gold J.D., Goldman S.A., Matalon R.K., Shi Y.-H.
Cell-based therapy for Canavan disease using human iPSC-derived NPCs and OPCs.
Adv. Sci. (Weinh.) 7:2002155.1-2002155.19(2020)

Cross-references
Cell line collections (Providers) Coriell; GM00060
Cell line databases/resources CLO; CLO_0025159
Encyclopedic resources Wikidata; Q54836010
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number15