PENN170i-M17-4
An additional clone from this iPS cell line (PENN169i-M17-3) is available from WiCell.
Cell Line Alias
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iPS-M17-SeV4 |
Cell Type
|
Human iPS |
Disease
|
Tangier disease |
Diagnosis Information
|
Diagnosis of Tangier disease was physician reported. Age at diagnosis was 27 Years of age. |
Genetic Alteration/Mutation
|
ABCA1(R1210stop)het; ABCA1(intron 32,G[-25]C)het |
Genetic Alteration/Mutation Information
|
Zygosity compound heterozygous, Allele 1 p.R1210X, Allele 2 intron 32, -25 (G>C) |
Sex
|
Male |
Age at Collection
|
43 Years |
Ethnicity
|
Asian |
Ethnicity Information
|
Self-reported |
Genetically Related Cell Lines
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Reprogramming Method
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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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