NHLBI Next Gen - Lipid Conditions (Dr. Daniel Rader, University of Pennsylvania)
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Cell Line | Cell Line Alias | Cell Type | Disease | Genetic Alteration/Mutation | Sex | Age at Collection | Ethnicity | Genetically Related Cell Lines | dbGaP Data |
|---|---|---|---|---|---|---|---|---|---|
M14-11 | Human iPS | Hyperalphalipoproteinemia | Zygosity homozygous, Allele1 p.P376L, Allele 2 p.P376L | Female | 65 Years | Caucasian | No | No | |
iPs-M4-SeV4 | Human iPS | None reported | Male | 26 Years | Caucasian | No | No | ||
iPS-M11-PB-SeV1 | Human iPS | None reported | Male | 21 Years | Asian | No | No | ||
iPS-M2-SeV21 | Human iPS | Tangier disease | Zygosity compound heterozygous, Allele 1 p.K531N>608X, Allele 2 p.S2046R | Male | 21 Years | Caucasian | Yes | No | |
M15-4 | Human iPS | None reported | Female | 62 Years | Caucasian | No | No | ||
iPS-M5-PB-SeV3 | Human iPS | Homozygous Familial Hypercholesterolemia | Zygosity homozygous, Allele1 del exons 3-6, Allele 2del exons 3-6 http://www.ncbi.nlm.nih.gov/gene/3718 | Female | 27 Years | Asian | No | No | |
M16-SeV1 | Human iPS | Homozygous Familial Hypercholesterolemia | Zygosity compound heterozygous, Allele 1 p.E605E fs 38X, Allele 2 del exons 4-6 http://www.ncbi.nlm.nih.gov/gene/3718 | Female | 28 Years | Latino|Native American | No | No | |
iPS-M17-SeV3 | Human iPS | Tangier disease | Zygosity compound heterozygous, Allele 1 p.R1210X, Allele 2 intron 32, -25 (G>C) | Male | 43 Years | Asian | No | No | |
iPS-M17-SeV4 | Human iPS | Tangier disease | Zygosity compound heterozygous, Allele 1 p.R1210X, Allele 2 intron 32, -25 (G>C) | Male | 43 Years | Asian | No | No | |
M9-9 | Human iPS | Homozygous Familial Hypercholesterolemia | 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 | Male | 22 Years | Caucasian | No | No |