Cell Line Search

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Showing 101 – 110 of 1558 Cell Lines 1558 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
Ethnicity
Genetically Related Cell Lines
dbGaP Data
WIBR3_LRRK2_G2019S_2093_Het
Modified Human ES
Parkinson's disease
LRRK2 G2019S, NP_940980.4, p.G2019S/WT
Female
No
No
Modified Human ES
None reported
Male
No
No
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
Human ES
None reported
Female
No
No
Modified Human ES
Neuronal ceroid lipofuscinosis (Type II)
SA mutation c.509-1 G>C
Female
No
No
Modified Human ES
Neuronal ceroid lipofuscinosis (Type II)
SA mutation c.509-1 G>C
Female
No
No
Modified Human ES
Neuronal ceroid lipofuscinosis (Type II)
SA mutation heterozygous c.509-1 G>C
Female
No
No
Modified Human ES
Neuronal ceroid lipofuscinosis (Type II)
SA mutation homozygous c.509-1 G>C
Female
No
No
HES-1
Human ES
None reported
Female
No
No
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