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Cellosaurus GM06153 (CVCL_7452)

[Text version]
Cell line name GM06153
Accession CVCL_7452
Resource Identification Initiative To cite this cell line use: GM06153 (RRID:CVCL_7452)
Comments Population: Caucasian; Portuguese.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 7106; ATXN3; Repeat_expansion; c.892CAG[71]; Zygosity=Heterozygous; Note=The other allele has 23 repeats (Coriell=GM06153).
Disease Spinocerebellar ataxia type 3 (NCIt: C84830)
Spinocerebellar ataxia type 3 (ORDO: Orphanet_98757)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_XC41 (IBCHi002-A)
Sex of cell Male
Age at sampling 44Y
Category Finite cell line
Publications

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=25732146; DOI=10.2174/1566524015666150303110300
Kano S.-i., Yuan M., Cardarelli R.A., Maegawa G., Higurashi N., Gaval-Cruz M., Wilson A.M., Tristan C.A., Kondo M.A., Chen Y., Koga M., Obie C., Ishizuka K., Seshadri S., Srivastava R., Kato T.A., Horiuchi Y., Sedlak T.W., Lee Y., Rapoport J.L., Hirose S., Okano H., Valle D.L., O'Donnell P., Sawa A., Kai M.
Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy.
Curr. Mol. Med. 15:138-145(2015)

PubMed=32361312; DOI=10.1016/j.scr.2020.101796
Ciolak A., Krzyzosiak W.J., Kozlowska E., Fiszer A.
Generation of human iPS cell line IBCHi002-A from spinocerebellar ataxia type 3/Machado-Joseph disease patient's fibroblasts.
Stem Cell Res. 45:101796-101796(2020)

Cross-references
Cell line collections (Providers) Coriell; GM06153
Cell line databases/resources CLO; CLO_0023571
Encyclopedic resources Wikidata; Q54842201
Entry history
Entry creation04-Apr-2012
Last entry update30-Jan-2024
Version number18