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Cell Line | Cell Line Alias | Cell Type | Disease | Genetic Alteration/Mutation | Sex | Age at Collection | Ethnicity | Genetically Related Cell Lines | dbGaP Data |
|---|---|---|---|---|---|---|---|---|---|
Human iPS | EIF3F-associated Neurodevelopmental Disorder | Whole exome sequencing revealed an autosomal recessive homozygous pathogenic variant in the EIF3F gene: c.694T>G/p.(Phe232Val) | Female | 6 years | Caucasian > European | No | No | ||
Human iPS | EIF3F-Related Neurodevelopmental Disorder | Whole exome sequencing revealed an autosomal recessive homozygous pathogenic variant in the EIF3F gene: c.694T>G/p.(Phe232Val) | Male | 2 years | Caucasian > European | No | No | ||
Human iPS | PACS2 Sydrome | Whole exome sequencing revealed a de novo autosomal dominant heterozygous pathogenic variant in the PACS2 gene: p.Glu209Lys/p.E209K (c.625G>A) | Male | 9 years | Caucasian | No | No | ||
Human iPS | PACS2 Sydrome | Whole exome sequencing revealed a de novo autosomal dominant heterozygous pathogenic variant in the PACS2 gene: p.Glu209Lys/p.E209K (c.625G>A) | Female | 3 years | Caucasian | No | No |