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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 |