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Cellosaurus HT144A (CVCL_UD78)

[Text version]
Cell line name HT144A
Synonyms GM27446; GM27446*B
Accession CVCL_UD78
Secondary accession CVCL_WM13
Resource Identification Initiative To cite this cell line use: HT144A (RRID:CVCL_UD78)
Comments From: NIH-NCATS-TRND Branch; Rockville; USA.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6617; LIPA; Simple; p.Ala199Cysfs*13 (c.594dupT); ClinVar=VCV000000080; Zygosity=Heterozygous (Coriell=GM27446).
  • Mutation; HGNC; 6617; LIPA; Simple; p.Gly266Ter (c.796G>T); ClinVar=VCV000000078; Zygosity=Heterozygous (Coriell=GM27446).
Disease Wolman disease (NCIt: C61271)
Wolman disease (ORDO: Orphanet_75233)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_X456 (GM06144)
Sex of cell Male
Age at sampling 2M
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=28659158

Markers:
AmelogeninX,Y
CSF1PO13
D3S135817
D5S81812,13
D7S8209,10
D8S117912,13
D13S31711,14
D16S53911
D18S5115,16
D21S1130,32.2
FGA22,23
Penta D14
Penta E15,16
TH017,9.3
TPOX10
vWA19

Run an STR similarity search on this cell line
Publications

PubMed=28659158; DOI=10.1186/s13023-017-0670-9
Aguisanda F., Yeh C.D., Chen C.Z., Li R., Beers J.K., Zou J.-H., Thorne N., Zheng W.
Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics.
Orphanet J. Rare Dis. 12:120.1-120.13(2017)

Cross-references
Cell line collections (Providers) Coriell; GM27446
Encyclopedic resources Wikidata; Q93933233
Wikidata; Q94305118
Entry history
Entry creation13-Nov-2018
Last entry update30-Jan-2024
Version number12