ID   SJCRH30 POLG Y955C
AC   CVCL_C1D0
DR   cancercelllines; CVCL_C1D0
DR   Wikidata; Q114313028
RX   PubMed=35760101;
CC   Population: Caucasian.
CC   Doubling time: 45.7 +- 5.6 hours (PubMed=35760101).
CC   Sequence variation: Gene fusion; HGNC; 3819; FOXO1 + HGNC; 8617; PAX3; Name(s)=PAX3-FOXO1, PAX3-FKHR (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 9179; POLG; Simple_edited; p.Tyr955Cys (c.2864A>G); ClinVar=VCV000013495; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=35760101).
CC   Sequence variation: Mutation; HGNC; 9864; RARA; Simple; p.Pro9Leu (c.26C>T); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 11998; TP53; Simple; p.Tyr205Cys (c.614A>G); ClinVar=VCV000376681; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 11998; TP53; Simple; p.Arg273Cys (c.817C>T); ClinVar=VCV000043594; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 11998; TP53; Simple; p.Arg280Ser (c.840A>T); ClinVar=VCV000988616; Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: Metastatic; Bone marrow; UBERON=UBERON_0002371.
DI   NCIt; C3749; Alveolar rhabdomyosarcoma
DI   ORDO; Orphanet_99756; Alveolar rhabdomyosarcoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_0041 ! Rh30
SX   Male
AG   17Y
CA   Cancer cell line
DT   Created: 22-09-22; Last updated: 05-10-23; Version: 5
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RX   PubMed=35760101; DOI=10.1016/j.jbc.2022.102196;
RA   Rahman M.M., Young C.K.J., Goffart S., Pohjoismaki J.L.O., Young M.J.;
RT   "Heterozygous p.Y955C mutation in DNA polymerase gamma leads to
RT   alterations in bioenergetics, complex I subunit expression, and mtDNA
RT   replication.";
RL   J. Biol. Chem. 298:102196.1-102196.29(2022).
//