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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_PINK1_Q129X_C4-1 | Modified Human ES | Parkinson's disease
| PINK1 Q129X, NP_115785.1, p.Q129X/p.Q129X
| Female | No | No | |||
WIBR3_PRKN_X3DEL_B1-3 | Modified Human ES | Parkinson's disease
| PRKN Exon 3 Deletion, NP_004553.2, p.N58Qfs*39/p.N58Qfs*39
| Female | No | No | |||
WIBR3_PRKN_X3DEL_F2-5 | Modified Human ES | Parkinson's disease
| PRKN Exon 3 Deletion, NP_004553.2, p.N58Qfs*39/p.N58Qfs*39
| Female | No | No | |||
WIBR3_SNCA_A30P_A2-3 | Modified Human ES | Parkinson's disease | SNCA A30P, NP_000336.1, p.A30P/WT | Female | No | No | |||
WIBR3_SNCA_A53T_1 | Modified Human ES | Parkinson's disease | SNCA A53T, NP_000336.1, p.A53T/WT
| Female | No | No | |||
WIBR3_SNCA_A53T_2 | Modified Human ES | Parkinson's disease | SNCA A53T, NP_000336.1, p.A53T/WT | Female | No | No | |||
WIBR3_SNCA_A53T_4 | Modified Human ES | Parkinson's disease | SNCA A53T, NP_000336.1 p.A53T/WT
| Female | No | No | |||
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 |