Table 1 Validation samples to verify the effect of NMD inhibitors
From: Cracking rare disorders: a new minimally invasive RNA-seq protocol
Gene | Variants | Inheritance | Coriell ID | PubMed ID/family or proband nr. | Average expression LCLs | |
|---|---|---|---|---|---|---|
Proband | XPC | XPC (NM_004628.5):c.1290_1295del (p.Tyr430_Glu432delinsTer) exon 9/16 | Homozygous | GM14870 | 16081512/XP69TMA | 54.7 |
Mother | XPC | XPC (NM_004628.5):c.1290_1295del (p.Tyr430_Glu432delinsTer) exon 9/16 | Heterozygous | GM15704 | 16081512/XP69TMA | |
Proband | TPP1 | TPP1 (NM_000391.4):c.622C > T (p.Arg208Ter) exon 6/13 | Heterozygous | GM20377 | 11339651/not mentioned | 66 |
TPP1 | TPP1 (NM_000391.4): c.376_380 + 6del exon 4/13 | Heterozygous | ||||
Proband | PPT1 | PPT1 (NM_000310.3):c.451C > T (p.Arg151Ter) exon 5/9 | Homozygous | GM16083 | 9664077/ref no. 9 (UT8-01) | 72 |
