|
Cell Type
|
Human iPS |
|
Disease
|
PACS1 (Schuurs-Hoeijmakers) syndrome |
|
Genetic Alteration/Mutation
|
PACS1 |
|
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). |
|
Sex
|
Female |
|
Age at Collection
|
3 Years |
|
Ethnicity
|
Caucasian > European Asian > Indian |
|
Ethnicity Information
|
Self-reported; Country of Origin: United States of America |
|
Genetically Related Cell Lines
|
|
|
Reprogramming Method
|
Non-integrating (Sendai: Oct4, Klf4, Sox2, cMyc) |
|
Tissue Origin
|
Skin Fibroblast (GM27159)
|
|
Provider
|
PACS1 Foundation
|
|
dbGaP Data
|
|
|
hPSCReg ID
|
|
|
NIH Approval
|
|
|
Pub Med Abstract
|
|
|
Collection(s)
|
PACS1 (Schuurs-Hoeijmakers) syndrome Collection
|
