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Cellosaurus UCSFi001-A-51 (CVCL_A8PN)

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Cell line name UCSFi001-A-51
Synonyms DYT1-HOMO-2F2; YH653-MUT-2F2-HOMO; ULLi002-A-51
Accession CVCL_A8PN
Resource Identification Initiative To cite this cell line use: UCSFi001-A-51 (RRID:CVCL_A8PN)
Comments From: University of Louisiana at Lafayette; Lafayette; USA.
Population: Japanese.
Derived from site: In situ; Leg, skin; UBERON=UBERON_0001511.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3098; TOR1A; Simple_edited; p.Glu303del (c.907_909delGAG); ClinVar=VCV000005180; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=34536661).
Disease Autosomal dominant torsion dystonia 1 (NCIt: C118780)
Early-onset generalized limb-onset dystonia (ORDO: Orphanet_256)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_Y803 (GM25256)
Sex of cell Male
Age at sampling 30Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=34536661

Markers:
AmelogeninX,Y
CSF1PO10,12
D2S133817,18
D3S135815,16
D5S81810
D7S82010,12
D8S117911,13
D13S3178,12
D16S5399,10
D18S5112,21
D19S43315,16
D21S1129
FGA22,25
Penta D9,11
Penta E13,15
TH016,7
TPOX8,11
vWA17,19

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Publications

PubMed=34536661; DOI=10.1016/j.scr.2021.102536; PMCID=PMC8561712
Masuma Akter, Hao-Chen Cui, Yi-Hsien Chen, Bao-Jin Ding;
Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line.
Stem Cell Res. 56:102536-102536(2021)

Cross-references
Cell line databases/resources hPSCreg; UCSFi001-A-51
Biological sample resources BioSamples; SAMEA8868386
Encyclopedic resources Wikidata; Q108821429
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number6