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Cellosaurus HT134E (CVCL_B5U0)

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Cell line name HT134E
Accession CVCL_B5U0
Resource Identification Initiative To cite this cell line use: HT134E (RRID:CVCL_B5U0)
Comments From: NIH-NCATS-TRND Branch; Rockville; USA.
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Homozygous (from parent cell line).
Disease Tay-Sachs disease (NCIt: C85184)
Tay-Sachs disease (ORDO: Orphanet_845)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_U381 (GM00221)
Sex of cell Male
Age at sampling 3Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=30220252

Markers:
AmelogeninX,Y
CSF1PO10
D2S133818,24
D3S135816,18
D5S81812,13
D7S8208,11
D8S117913,16
D13S3178,12
D16S53913
D18S5113,15
D19S43314
D21S1131.2,33.2
FGA20,25
Penta D13,15
Penta E11,14
TH016,10
TPOX8,11
vWA14,17

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Publications

PubMed=30220252; DOI=10.1186/s13023-018-0886-3; PMCID=PMC6139903
Mylinh Vu, Rong Li, Amanda Baskfield, Billy Lu, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette K. Beers, Guo-Kai Chen, Ji-Zhong Zou, Angela J. Espejo-Mojica ...Show all 18 authors... , Alexander Rodriguez-Lopez, Carlos Javier Almeciga-Diaz, Luis A. Barrera, Xun-Tian Jiang, Daniel S. Ory, Juan Jose Marugan, Wei Zheng; Show fewer authors
Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease.
Orphanet J. Rare Dis. 13:152.1-152.15(2018)

Cross-references
Encyclopedic resources Wikidata; Q111733450
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number5