Cell Line Alias
|
iPS-M3-SeV19 |
Cell Type
|
Human iPS |
Disease
|
ABCA1 heterozygous |
Diagnosis Information
|
Diagnosis of ABCA1 heterozygous was physician reported. Age at diagnosis was 15 Years of age. |
Genetic Alteration/Mutation
|
ABC1(K531N)het |
Genetic Alteration/Mutation Information
|
Zygosity heterozygous, Allele1 p.K531N>608X |
Sex
|
Male |
Age at Collection
|
25 Years |
Ethnicity
|
Caucasian |
Ethnicity Information
|
Self-reported |
Genetically Related Cell Lines
|
|
Reprogramming Method
|
Non-integrating (Sendai: Oct4, Klf4, Sox2, cMyc) |
Tissue Origin
|
Blood |
Provider
|
University of Pennsylvania - Dr. Daniel Rader
|
dbGaP Data
|
|
hPSCReg ID
|
|
NIH Approval
|
|
Pub Med Abstract
|
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Collection(s)
|
NHLBI Next Gen - Lipid Conditions (Dr. Daniel Rader, University of Pennsylvania)
|