Cellosaurus cell line UM134-1 PGD (CVCL

Cellosaurus UM134-1 PGD (CVCL_X365)

Cross-references
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	Provider; MStem Cell; -; https://www.mstemcell.org/purchase-stem-cell-lines/
Publications	PubMed=31374463; DOI=10.1016/j.scr.2019.101504; PMCID=PMC6736695 Lauren Rebecca Moore, Laura Keller, David D. Bushart, Rodrigo G. Delatorre, Duo-Jia Li, Hayley S. McLoughlin, Maria do Carmo Costa, Vikram G. Shakkottai, Gary D. Smith, Henry Lauris Paulson; 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 Lauren Rebecca Moore, Laura Keller, Henry Lauris Paulson, Gary D. Smith; Derivation of spinocerebellar ataxia type 3 human embryonic stem cell line UMICHe001-A/UM134-1. Stem Cell Res. 64:102873-102873(2022)
Cell line databases/resources	hPSCreg; UMICHe001-A NIHhESC; NIHhESC-14-0286
Biological sample resources	BioSamples; SAMEA110401634
Encyclopedic resources	Wikidata; Q54991007
Entry history
Entry creation	17-Jul-2014
Last entry update	10-Apr-2025
Version number	17