PENN150i-M7-9
An additional clone from this iPS cell line (PENN144i-M7-16) is available from WiCell.
Cell Line Alias
|
iPS-M7-PB-SeV9 |
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
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Reprogramming Method
|
Non-integrating (Sendai: Oct4, Klf4, Sox2, cMyc) |
Tissue Origin
|
Blood |
Provider
|
University of Pennsylvania - Dr. Daniel Rader
|
dbGaP Data
|
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hPSCReg ID
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NIH Approval
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Pub Med Abstract
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Collection(s)
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NHLBI Next Gen - Lipid Conditions (Dr. Daniel Rader, University of Pennsylvania)
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