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XP6BE;SV40 transformed;positive family history;neurological complications;passage 3 at CCR;karyotype is female;78% near diploid;22% near tetraploid;and all cells show chromosome aberrations;donor subject is a compound heterozygote for mutations in the ERCC2 gene: one allele carries a C-to-T substitution at nucleotide 2047 in the ERCC2 cDNA (2047C>T) which results in a change of Arg-683 to Trp Arg683Trp (R683W) and the second allele deletion of 78 nucleotides in exon 3 beginning at nucleotide 106 which results in the deltion of amino acids 36 to 61 (DEL 36_61).
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