| Cell line name |
SJCRH30 POLG Y955C |
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| Accession |
CVCL_C1D0 |
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| Resource Identification Initiative |
To cite this cell line use: SJCRH30 POLG Y955C (RRID:CVCL_C1D0) |
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| Comments |
Population: Caucasian.
Doubling time: 45.7 +- 5.6 hours (PubMed=35760101).
Derived from site: Metastatic; Bone marrow; UBERON=UBERON_0002371. |
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| 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).
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| Disease |
Alveolar rhabdomyosarcoma (NCIt: C3749)
Alveolar rhabdomyosarcoma (ORDO: Orphanet_99756) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Hierarchy |
Parent: CVCL_0041 (Rh30) |
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| Sex of cell |
Male |
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| Age at sampling |
17Y |
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| Category |
Cancer cell line |
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| Publications | PubMed=35760101; DOI=10.1016/j.jbc.2022.102196; PMCID=PMC9307957
Md Mostafijur Rahman, Carolyn K.J. Young, Steffi Goffart, Jaakko L.O. Pohjoismaki, Matthew Jason Young;
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) |
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| Cross-references |
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| Cell line databases/resources |
cancercelllines; CVCL_C1D0
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| Encyclopedic resources |
Wikidata; Q114313028
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| Entry history |
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| Entry creation | 22-Sep-2022 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 6 |
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