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Cellosaurus CSUXHi001-A (CVCL_XI42)

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Cell line name CSUXHi001-A
Synonyms XHCSUi001-A; UiPSC-SCA3-001
Accession CVCL_XI42
Resource Identification Initiative To cite this cell line use: CSUXHi001-A (RRID:CVCL_XI42)
Comments From: Department of Neurology, Xiangya Hospital of Central South University; Changsha; China.
Population: Chinese; Han.
Donor information: At sampling donor was not affected with Machado-Joseph disease but at significant risk for disease.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; HGNC:7106; ATXN3; Repeat_expansion; c.892CAG[74]; Zygosity=Heterozygous (PubMed=31491691).
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 Female
Age at sampling 12Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=31491691

Markers:
AmelogeninX
CSF1PO12
D1S165612,16
D2S133820,24
D3S135816,17
D5S81810,11
D6S104314,18
D7S82011,13
D8S117912,15,16
D12S39118,19
D13S3178,9
D16S53911,13
D18S5113,15.2
D19S43314.2,15.2
D21S1129,33.2
FGA24,25
Penta D9,13
Penta E5,12
TH017,9
TPOX8,11
vWA14,16

Run an STR similarity search on this cell line
Publications

PubMed=31491691; DOI=10.1016/j.scr.2019.101555
Lang He, Wei Ye, Zhao Chen, Chun-Rong Wang, Hui-Fang Zhao, Shuai Li, Lin-Liu Peng, Xiao-Bo Han, Tian-Cheng Zhou, Zhi-Yuan Li, Bei-Sha Tang, Hong Jiang;
Generation of an induced pluripotent stem cell line (XHCSUi001-A) from urine cells of a patient with spinocerebellar ataxia type 3.
Stem Cell Res. 40:101555-101555(2019)

Cross-references
Cell line databases/resources hPSCreg; CSUXHi001-A
SKIP; SKIP005566
Biological sample resources BioSamples; SAMEA6114048
Encyclopedic resources Wikidata; Q93459769
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number10