PENN147i-M9-7
An additional clone from this iPS cell line (PENN171i-M9-9) is available from WiCell.
Cell Line Alias
|
M9-7 |
Cell Type
|
Human iPS |
Disease
|
Homozygous Familial Hypercholesterolemia |
Diagnosis Information
|
Diagnosis of Homozygous Familial Hypercholesterolemia was physician reported. Age at diagnosis was 3 Years of age. Additional diagnosis of aortic valve stenosis was also reported. |
Genetic Alteration/Mutation
|
LDLR(del exon4-6)het |
Genetic Alteration/Mutation Information
|
Zygosity compound heterozygous, Allele1 p.W483X (old aa No: p. W462X), Allele 2 p.G549D (old aa No: p.G528D) http://www.ncbi.nlm.nih.gov/gene/3718 |
Sex
|
Male |
Age at Collection
|
22 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)
|
NHLBI Next Gen - Lipid Conditions (Dr. Daniel Rader, University of Pennsylvania)
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