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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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
Human iPS
EIF3F-associated Neurodevelopmental Disorder
Whole exome sequencing revealed an autosomal recessive homozygous pathogenic variant in the EIF3F gene: c.694T>G/p.(Phe232Val)
Female
6 years
Caucasian > European
No
No
Human iPS
EIF3F-Related Neurodevelopmental Disorder
Whole exome sequencing revealed an autosomal recessive homozygous pathogenic variant in the EIF3F gene: c.694T>G/p.(Phe232Val)
Male
2 years
Caucasian > European
No
No

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