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Cellosaurus GM06144 (CVCL_X456)

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Cell line name GM06144
Accession CVCL_X456
Resource Identification Initiative To cite this cell line use: GM06144 (RRID:CVCL_X456)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6617; LIPA; Simple; p.Ala199Cysfs*13 (c.594dupT); ClinVar=VCV000000080; Zygosity=Heterozygous (Coriell=GM06144).
  • Mutation; HGNC; HGNC:6617; LIPA; Simple; p.Gly266Ter (c.796G>T); ClinVar=VCV000000078; Zygosity=Heterozygous (Coriell=GM06144).
Disease Wolman disease (NCIt: C61271)
Wolman disease (ORDO: Orphanet_75233)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_UD78 (HT144A)CVCL_UD79 (HT144B)
Sex of cell Male
Age at sampling 2M
Category Finite cell line
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

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=28659158; DOI=10.1186/s13023-017-0670-9; PMCID=PMC5490176
Francis Aguisanda, Charles D. Yeh, Catherine Z. Chen, Rong Li, Jeanette K. Beers, Ji-Zhong Zou, Natasha Thorne, Wei Zheng;
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; GM06144
Cell line databases/resources CLO; CLO_0023564
Encyclopedic resources Wikidata; Q54842194
Entry history
Entry creation05-Sep-2014
Last entry update19-Dec-2024
Version number17