- Unit of Measure (UOM) vial
- Cell Type Human iPS
- Sex Male
- Age at Collection 6 Years
- Ethnicity Information Self-reported; Country of Origin: United States of America
- Reprogramming Method Non-integrating (Sendai: Oct4, Klf4, Sox2, cMyc)
- Tissue Origin Skin Fibroblast Buttock (GM27161)
- Genetic Alteration Mutation Information 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).
- Disease PACS1 (Schuurs-Hoeijmakers) syndrome
- Ethnicity Caucasian > European
- Genetic Alteration Mutation PACS1
- Provider PACS1 Foundation
- Collections PACS1 (Schuurs-Hoeijmakers) syndrome Collection
Lot Number | Culture Platform | Lot Description | Banked By | Passage Number | Protocol | Product Info URL |
DB67161 | Stem Cell Culture Medium (KOSR/MEF) | Provider | 15 | WiCell Feeder Based (MEF) Pluripotent Stem Cell Protocol |