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Lymphoblastoid cell lines of families with Mitochondrial Myopathy and Sideroblastic Anemia

ABSTRACT: We analyzed samples from two affected brothers (Affected 3 and 4) and their two affected female cousins (Affected 7 and 9) homozygous for the MLASA ? associated C656T mutation in the PUS1 gene; four parents ? heterozygous carriers of the C656T mutation (Parents 1, 2, 5, 6), and an unaffected female carrying wild-type genotype at the PUS1 gene (Control 8). In addition, two females and one male with normal hearing from Arab-Israeli family with nonsyndromic deafness carrying wild-type PUS1 sequence were used as controls (Controls 10, 11, 12). Keywords: Comparison of genome-wide expression in cell lines of patients and controls

ORGANISM(S): Homo sapiens

PROVIDER: GSE6374 | GEO | 2006/11/29

SECONDARY ACCESSION(S): PRJNA99597

REPOSITORIES: GEO

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