- Unit of Measure (UOM) vial
- Cell Type Human iPS
- Sex Female
- Age at Collection 3 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 (GM27159)
- Genetic Alteration Mutation Information 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).
- Disease PACS1 (Schuurs-Hoeijmakers) syndrome
- Ethnicity Caucasian > European Asian > Indian
- Genetic Alteration Mutation PACS1
- Genetically related cell lines Yes
- Provider PACS1 Foundation
- Collections PACS1 (Schuurs-Hoeijmakers) syndrome Collection
Lot Number | Culture Platform | Lot Description | Banked By | Passage Number | Protocol | Product Info URL |
DB67290 | Stem Cell Culture Medium (KOSR/MEF) | Provider | 17 | WiCell Feeder Based (MEF) Pluripotent Stem Cell Protocol |