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Cellosaurus HT151A (CVCL_B5TY)

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Cell line name HT151A
Accession CVCL_B5TY
Resource Identification Initiative To cite this cell line use: HT151A (RRID:CVCL_B5TY)
Comments From: NIH-NCATS-TRND Branch; Rockville; USA.
Population: Jewish; Ashkenazi.
Derived from site: In situ; Heart, pericardium; UBERON=UBERON_0002407.
Cell type: Fibroblast of heart; CL=CL_0002548.
Sequence variations
  • Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Trp392Ter (c.1176G>A); ClinVar=VCV000003936; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Heterozygous (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_U384 (GM00515)
Sex of cell Female
Age at sampling 1Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=30220252

Markers:
AmelogeninX
CSF1PO12
D2S133817,25
D3S135816,17
D5S81811,12
D7S82011,12
D8S117912,13
D13S31711
D16S53912,14
D18S5112,17
D19S43314
D21S1129,30
FGA19,25
Penta D12
Penta E11,13
TH017,9
TPOX8,12
vWA14,15

Run an STR similarity search on this cell line
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; Q111733455
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number5