PENN147i-M9-7
An additional clone from this iPS cell line (PENN171i-M9-9) is available from WiCell.
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Cell Line Alias
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M9-7 |
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Cell Type
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Human iPS |
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Disease
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Homozygous Familial Hypercholesterolemia |
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Diagnosis Information
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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. |
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Genetic Alteration/Mutation
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LDLR(del exon4-6)het |
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Genetic Alteration/Mutation Information
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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 |
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Sex
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Male |
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Age at Collection
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22 Years |
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Ethnicity
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Caucasian |
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Ethnicity Information
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Self-reported |
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Genetically Related Cell Lines
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Reprogramming Method
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Non-integrating (Sendai: Oct4, Klf4, Sox2, cMyc) |
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Tissue Origin
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Blood |
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Provider
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University of Pennsylvania - Dr. Daniel Rader
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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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