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Cellosaurus SJCRH30 POLG Y955C (CVCL_C1D0)

[Text version]
Cell line name SJCRH30 POLG Y955C
Accession CVCL_C1D0
Resource Identification Initiative To cite this cell line use: SJCRH30 POLG Y955C (RRID:CVCL_C1D0)
Comments Population: Caucasian.
Doubling time: 45.7 +- 5.6 hours (PubMed=35760101).
Derived from site: Metastatic; Bone marrow; UBERON=UBERON_0002371.
Sequence variations
  • Gene fusion; HGNC; HGNC:3819; FOXO1 + HGNC; HGNC:8617; PAX3; Name(s)=PAX3-FOXO1, PAX3-FKHR (from parent cell line).
  • Mutation; HGNC; HGNC:9179; POLG; Simple_edited; p.Tyr955Cys (c.2864A>G); ClinVar=VCV000013495; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=35760101).
  • Mutation; HGNC; HGNC:9864; RARA; Simple; p.Pro9Leu (c.26C>T); Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:11998; TP53; Simple; p.Tyr205Cys (c.614A>G); ClinVar=VCV000376681; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:11998; TP53; Simple; p.Arg273Cys (c.817C>T); ClinVar=VCV000043594; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:11998; TP53; Simple; p.Arg280Ser (c.840A>T); ClinVar=VCV000988616; Zygosity=Heterozygous (from parent cell line).
Disease Alveolar rhabdomyosarcoma (NCIt: C3749)
Alveolar rhabdomyosarcoma (ORDO: Orphanet_99756)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0041 (Rh30)
Sex of cell Male
Age at sampling 17Y
Category Cancer cell line
Publications

PubMed=35760101; DOI=10.1016/j.jbc.2022.102196; PMCID=PMC9307957
Rahman M.M., Young C.K.J., Goffart S., Pohjoismaki J.L.O., Young M.J.
Heterozygous p.Y955C mutation in DNA polymerase gamma leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication.
J. Biol. Chem. 298:102196.1-102196.29(2022)

Cross-references
Cell line databases/resources cancercelllines; CVCL_C1D0
Encyclopedic resources Wikidata; Q114313028
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number6