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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 |
|---|---|---|---|---|---|---|---|---|---|
SC12-020; PCBC05hsi2012061402 | Human iPS | None reported | Male | Neonatal | Unknown | No | No | ||
Neural Stem Cell | None reported | Male | No | No | |||||
Neural Stem Cell | None reported | Male | No | No | |||||
Neural Stem Cell | None reported | Female | No | No | |||||
Human iPS | None reported | Female | 39 Years | Asian > Indian | Yes | No | |||
Human iPS | PACS1 (Schuurs-Hoeijmakers) syndrome | DNA PCR dideoxyterminator sequencing performed on DNA obtained from a buccal specimen found a pathogenic de novo heterozygous, missense variant (c.607C>T, p.Arg203Trp) in exon 4 of the PACS1 gene (NM_018026.3); genomic variant is Chr11: 65978677C>T (GRCh37/hg19). | Female | 3 Years | Caucasian > European Asian > Indian | Yes | No | ||
Human iPS | PACS1 (Schuurs-Hoeijmakers) syndrome | Genomic whole exome sequencing revealed a de novo autosomal dominant heterozygous pathogenic variant in exon 4 of the PACS1 gene: p.R203W (c.607C>T). | Male | 6 Years | Caucasian > European | No | No | ||
Human iPS | PACS2 Syndrome | Whole exome sequencing revealed a de novo autosomal dominant heterozygous pathogenic variant in the PACS2 gene: p.Glu209Lys/p.E209K (c.625G>A) | Female | 10 Months | Caucasian | No | No | ||
Human iPS | PACS2 Syndrome | 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 Syndrome | 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 |