Cell Line Search

A pair of gloved hands place a label on a small WiCell vial containing human embryonic stem cells.
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Showing 1 – 3 of 3 Cell Lines 3 Cell Lines Showing the single result No results found
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Cell Line
Cell Line Alias
Cell Type
Disease
Genetic Alteration/Mutation
Sex
Age at Collection
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Genetically Related Cell Lines
dbGaP Data
PACS2iPS01-C5
Human iPS
PACS2 Syndrome
Whole exome sequencing revealed a de novo autosomal dominant heterozygous pathogenic variant in the PACS2 gene: p.Glu209Lys/p.E209K (c.625G>A)
Female
10 Months
Caucasian
No
No
PACSIIi002-A
Human iPS
PACS2 Syndrome
Whole exome sequencing revealed a de novo autosomal dominant heterozygous pathogenic variant in the PACS2 gene: p.Glu209Lys/p.E209K (c.625G>A)
Male
9 years
Caucasian
No
No
PACSIIi003-A
Human iPS
PACS2 Syndrome
Whole exome sequencing revealed a de novo autosomal dominant heterozygous pathogenic variant in the PACS2 gene: p.Glu209Lys/p.E209K (c.625G>A)
Female
3 years
Caucasian
No
No

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