PENN167i-M5-3
An additional clone from this iPS cell line (PENN139i-M5-4) is available from WiCell.
Cell Line Alias
|
iPS-M5-PB-SeV3 |
Cell Type
|
Human iPS |
Disease
|
Homozygous Familial Hypercholesterolemia |
Diagnosis Information
|
Diagnosis of Homozygous Familial Hypercholesterolemia was physician reported. Age at diagnosis was 6 Years of age. |
Genetic Alteration/Mutation
|
LDLR(del exon3-6)homo |
Genetic Alteration/Mutation Information
|
Zygosity homozygous, Allele1 del exons 3-6, Allele 2del exons 3-6 http://www.ncbi.nlm.nih.gov/gene/3718 |
Sex
|
Female |
Age at Collection
|
27 Years |
Ethnicity
|
Asian |
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)
|
NHLBI Next Gen - Lipid Conditions (Dr. Daniel Rader, University of Pennsylvania)
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