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Cellosaurus GM01361 (CVCL_9W81)

[Text version]

Cell line name GM01361
Synonyms GM-1361
Accession CVCL_9W81
Resource Identification Initiative To cite this cell line use: GM01361 (RRID:CVCL_9W81)
Sequence variations Heterozygous for GALNS p.Arg61Trp (c.181C>T) and p.Trp405_Thr406del (c.1213_1218delTGGACC) (WT405del) (PubMed=30797135).
Disease Mucopolysaccharidosis type IVA (NCIt: C84901)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_UL24 (TRNDi005-A)
Sex of cell Male
Age at sampling 43Y
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=30797135; DOI=10.1016/j.scr.2019.101408
Li R., Baskfield A., Beers J., Zou J., Liu C., Almeciga-Diaz C.J., Zheng W.
Generation of an induced pluripotent stem cell line (TRNDi005-A) from a mucopolysaccharidosis type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene.
Stem Cell Res. 36:101408-101408(2019)

Cross-references
Cell line collections Coriell; GM01361
Ontologies CLO; CLO_0030903
Biological sample resources BioSample; SAMN00803816
Other Wikidata; Q54836781
Entry history
Entry creation23-Feb-2016
Last entry updated24-May-2019
Version number6