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Cell Line Alias
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iPS-M3-SeV19 |
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Cell Type
|
Human iPS |
|
Disease
|
ABCA1 heterozygous |
|
Diagnosis Information
|
Diagnosis of ABCA1 heterozygous was physician reported. Age at diagnosis was 15 Years of age. |
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Genetic Alteration/Mutation
|
ABC1(K531N)het |
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Genetic Alteration/Mutation Information
|
Zygosity heterozygous, Allele1 p.K531N>608X |
|
Sex
|
Male |
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Age at Collection
|
25 Years |
|
Ethnicity
|
Caucasian |
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Ethnicity Information
|
Self-reported |
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Genetically Related Cell Lines
|
|
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Reprogramming Method
|
Non-integrating (Sendai: Oct4, Klf4, Sox2, cMyc) |
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Tissue Origin
|
Blood |
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Provider
|
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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