|
Cell Line Alias
|
iPS-M7-SeV16 |
|
Cell Type
|
Human iPS |
|
Disease
|
Abetalipoproteinemia |
|
Diagnosis Information
|
Diagnosis of Abetalipoproteinemia was physician reported. Age at diagnosis was 9 Years of age (symptoms since birth). Additional diagnosis of kidney stones, blindness, and quadriplegia were also reported. |
|
Genetic Alteration/Mutation
|
MTP(R46G) |
|
Genetic Alteration/Mutation Information
|
Zygosity homozygous, Allele1 p.R46G, Allele 2p.R46G |
|
Sex
|
Male |
|
Age at Collection
|
60 Years |
|
Ethnicity
|
Caucasian |
|
Ethnicity Information
|
Self-reported |
|
Genetically Related Cell Lines
|
|
|
Reprogramming Method
|
Non-integrating (Sendai: Oct4, Klf4, Sox2, cMyc) |
|
Tissue Origin
|
Blood |
|
Provider
|
University of Pennsylvania - Dr. Daniel Rader
|
|
dbGaP Data
|
|
|
hPSCReg ID
|
|
|
NIH Approval
|
|
|
Pub Med Abstract
|
|
|
Collection(s)
|
NHLBI Next Gen - Lipid Conditions (Dr. Daniel Rader, University of Pennsylvania)
|
