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Cellosaurus UM134-1 PGD (CVCL_X365)

[Text version]
Cell line name UM134-1 PGD
Synonyms UM134-1-PGD; UM134-1; SCA3-hESC; UMICHe001-A
Accession CVCL_X365
Resource Identification Initiative To cite this cell line use: UM134-1 PGD (RRID:CVCL_X365)
Comments From: University of Michigan; Ann Arbor; USA.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-14-0286.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:7106; ATXN3; Repeat_expansion; c.892CAG[70]; Zygosity=Heterozygous; Note=The other allele has 13 repeats (PubMed=31374463; PubMed=35952620).
Disease Spinocerebellar ataxia type 3 (NCIt: C84830)
Spinocerebellar ataxia type 3 (ORDO: Orphanet_98757)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Blastocyst stage
Category Embryonic stem cell
Web pages https://www.mstemcell.org/purchase-stem-cell-lines/
Publications

PubMed=31374463; DOI=10.1016/j.scr.2019.101504; PMCID=PMC6736695
Moore L.R., Keller L., Bushart D.D., Delatorre R.G., Li D.-J., McLoughlin H.S., do Carmo Costa M., Shakkottai V.G., Smith G.D., Paulson H.L.
Antisense oligonucleotide therapy rescues aggresome formation in a novel spinocerebellar ataxia type 3 human embryonic stem cell line.
Stem Cell Res. 39:101504-101504(2019)

PubMed=35952620; DOI=10.1016/j.scr.2022.102873; PMCID=PMC10020865
Moore L.R., Keller L., Paulson H.L., Smith G.D.
Derivation of spinocerebellar ataxia type 3 human embryonic stem cell line UMICHe001-A/UM134-1.
Stem Cell Res. 64:102873-102873(2022)

Cross-references
Cell line databases/resources hPSCreg; UMICHe001-A
NIHhESC; NIHhESC-14-0286
Biological sample resources BioSamples; SAMEA110401634
Encyclopedic resources Wikidata; Q54991007
Entry history
Entry creation17-Jul-2014
Last entry update19-Dec-2024
Version number16