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Cellosaurus HT151A (CVCL_B5TY)

[Text version]
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

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Publications

PubMed=30220252; DOI=10.1186/s13023-018-0886-3; PMCID=PMC6139903
Vu M., Li R., Baskfield A., Lu B., Farkhondeh A., Gorshkov K., Motabar O., Beers J.K., Chen G.-K., Zou J.-Z., Espejo-Mojica A.J., Rodriguez-Lopez A., Almeciga-Diaz C.J., Barrera L.A., Jiang X.-T., Ory D.S., Marugan J.J., Zheng W.
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