Table 1 Characteristics of individual BTHS patient and healthy donor lymphoblasts obtained from Coriell NIGMS—human genetic cell repository.
Order number | Sex | Age (years) | Type of mutation |
|---|---|---|---|
GM22192 | Male | 10 | C > T change in exon 3 of TAZ (G4.5) gene, resulting in substitution of cysteine for arginine at codon 94 [Arg94Cyc (R94C)] |
GM22194 | Male | 9 | Complete deletion of TAZ (G4.5) gene |
GM22193 | Male | 10 | T > A change in exon 6 of TAZ (G4.5) gene, resulting in a premature stop codon [Leu166Ter (L166X)] |
GM22150 | Male | 7 | G > A change in exon 2 of the TAZ (G4.5) gene, resulting in a premature stop codon [Trp79Ter (W79X)] |
GM22163 | Male | 9 | 1 bp deletion (171delA) in exon 2, resulting in a frameshift after amino acid 57 [Gly58AlafsX25] |
AG15022 | Male | 10 | Apparently healthy individual |
AG14731 | Male | 8 | Apparently healthy individual |
AG14948 | Male | 10 | Apparently healthy individual |
AG14750 | Male | 9 | Apparently healthy individual |
AG14947 | Male | 10 | Apparently healthy individual |
