Donor Categories

Browse cell lines by donor characteristics, such as biological sex or genetic polymorphisms.

Biological Sex

Female
94 donors
Male
67 donors
Unknown
1 donor

Disease Status

No Disease
45 donors
With Disease
117 donors

Polymorphisms

APOE ε4/4 C9orf72 repeat expansion C9orf72: Chr9: 13997–68401065 (C9orf72 repeat expansion) Compound heterozygous: NM_000086.2:c.175G>A(p.Ala59Thr); and: unspecified_reference_CLN3: 1.02kb deletion including of exons 7 and 8 Compound heterozygous: NM_000350.2:c.[4139C>T];[5461-10T>C] Compound heterozygous: NM_000350.2:c.[5461-10T>C;5603A>T];[4163T>C;455G>A] Compound heterozygous: NM_000350.2:c.[768G>T];[6079C>T] Compound heterozygous: NM_014014.5:c.[1792C>T];[3341T>C] Compound heterozygous: NM_018191.4:c.170del(p.Gly57Glufs*12); and: NM_018191.4:c.707del(p.Asn236Thrfs*11) Compound heterozygous: NM_201253.2:c.1892A>G(p.Tyr631Cys); and: NM_201253.2:c.2548G>A(p.Gly850Ser) Compound heterozygous: NM_201253.3:c.[2555T>C];[3014A>T] Compound heterozygous: NM_206933.2:c.[949C>A]; [1256G>T] Compound heterozygous: NM_206933.2:c.[949C>A];[1256G>T] Compound heterozygous: deletion of PRKN exon 2 (hg38 breakpoints: chr6:162,373,997–162,454,310); and: deletion of PRKN exons 5, 6 and 7 (hg38 breakpoints: chr6:161,782,323–162,062,127) Compound heterozygous: unspecified_reference_ABCA4:c.[5461–10T>C;5603A>T];[6077T>C] Compound heterozygous: unspecified_reference_CYP2U1:Chr4:107932113(c.471delC(p.Ile158fs)); and: unspecified_reference_CYP2U1:Chr4: 107945564(c.1085T>C(p.Leu362Pro)) Compound heterozygous: unspecified_reference_CYP2U1:Chr4:107949437(c.1376C>T(p.Pro459Leu)); and: unspecified_reference_CYP2U1:Chr4:107950250(c.1462C>T(p.Arg488Trp)) Compound heterozygous: unspecified_reference_PAH: c.117C>G(p.Phe39Leu); and: unspecified_reference_PAH: c.1066G>A[IVS10-11G>A] Compound heterozygous: unspecified_reference_PAH: c.896T>G(p.Phe299Cys); and: unspecified_reference_PAH: c.1222C>T(p.ARG408Trp) Compound heterozygous: unspecified_reference_PRKN:p.Arg275Trp; and: unspecified_reference_PRKN:133kb deletion encompassing exon 8. Heterozygous (A>G): rs9349379 Heterozygous: NM_000257.4:c.4850_4852delAGA(NP_000248.2:p.Lys1617del) Heterozygous: NM_000335.5:c.392+3A>G Heterozygous: NM_000454.4:c.229G>T(unspecified_reference_SOD1:p.Asp77Tyr) Heterozygous: NM_000540.3: c.4038C>A(NP_000531.2:p.Asn1346Lys) Heterozygous: NM_000540.3:c.14145_14156delCTACTGGGACAA(NP_000531.2:p.Asn4715_Asp4718del) Heterozygous: NM_000540.3:c.14437C>T(NP_000531.2:p.His4813Tyr) Heterozygous: NM_000540.3:c.7522C>T(NP_000531.2: p.Arg2508Cys) Heterozygous: NM_001232.4:c.539A>G(NP_001223.2:p.Lys180Arg) Heterozygous: NM_001270525.1:c.259G>A(NP_001257454.1:p.Glu87Lys) Heterozygous: NM_006269.1:c.2098G>T(p.E700X) Heterozygous: NM_015629.3:c.1205C>A(p.Ser402Ter) Heterozygous: unspecified_reference_ACTA1:c.443G>A(p.Gly148Asp) Heterozygous: unspecified_reference_COL1A1:c.3936G>T(p.Trp1312Cys) Heterozygous: unspecified_reference_COL6A1:c.1056+2T>A Heterozygous: unspecified_reference_CYP2U1:Chr4:107945564(c.1085T>C(p.Leu362Pro)) Heterozygous: unspecified_reference_SCN2A: p.Arg1882Gln Heterozygous: unspecified_reference_SCN2A:p.Glu1211Lys Heterozygous: unspecified_reference_SOD1:p.Glu101Gly Heterzygous: unspecified_reference_CYP2U1:Chr4:107932113(c.471delC(p.Ile158fs)) Homozygous: NM_000260.3:c.496del(NP_000251.3:p.Glu166Argfs*5) Homozygous: unspecified_reference_COL1A1:c.3936=(p.Trp1312=) [C9orf72 repeat expansion] [C9orf72: Chr9: 13997–68401065 (C9orf72 repeat expansion)] [Heterozygous (A>G): rs9349379] [Heterozygous: NM_000086.2:c.175G>A(p.Ala59Thr)] [Heterozygous: NM_000335.5:c.392+3A>G] [Heterozygous: NM_000350.2:c.455G>A] [Heterozygous: NM_000350.2:c.5461-10T>C] [Heterozygous: NM_000350.2:c.768G>T(p.(=))] [Heterozygous: NM_000454.4:c.229G>T(unspecified_reference_SOD1:p.Asp77Tyr)] [Heterozygous: NM_001232.4:c.539A>G((NP_001223.2):p.(Lys180Arg))] [Heterozygous: NM_006269.1:c.2098G>T(p.E700X)] [Heterozygous: NM_014014.5:c.1792C>T(p.Arg598Cys)] [Heterozygous: NM_015629.3:c.1205C>A(p.Ser402Ter)] [Heterozygous: NM_018191.4:c.170del(p.Gly57Glufs*12)] [Heterozygous: NM_201253.2:c.1892A>G(p.Tyr631Cys)] [Heterozygous: NM_201253.3:c.2555T>C] [Heterozygous: NM_206933.2:c.949C>A(p.(=],[Tyr318Cysfs*17))], [Heterozygous: NM_206933.2:c.949C>A(p.(=, Tyr318Cysfs*17))] [Heterozygous: deletion of PRKN exon 2 (hg38 breakpoints: chr6:162],[373],[997–162],[454],[310)], [Heterozygous: deletion of PRKN exon 2 (hg38 breakpoints: chr6:162,373,997–162,454,310)] [Heterozygous: unspecified_reference_ABCA4:c.5461–10T>C] [Heterozygous: unspecified_reference_ACTA1:c.443G>A(p.Gly148Asp)] [Heterozygous: unspecified_reference_COL1A1:c.3936G>T(p.Trp1312Cys)] [Heterozygous: unspecified_reference_COL1A1:c.3936G>T] [Heterozygous: unspecified_reference_COL6A1:c.1056+2T>A] [Heterozygous: unspecified_reference_CYP2U1:Chr4:107932113(c.471delC(p.Ile158fs))] [Heterozygous: unspecified_reference_CYP2U1:Chr4:107945564(c.1085T>C(p.Leu362Pro))] [Heterozygous: unspecified_reference_CYP2U1:Chr4:107949437(c.1376C>T(p.Pro459Leu))] [Heterozygous: unspecified_reference_PRKN:133kb deletion encompassing exon 8.] [Heterozygous: unspecified_reference_SCN2A: p.R1882Q] [Heterozygous: unspecified_reference_SCN2A:p.Glu1211Lys] [Heterozygous: unspecified_reference_SOD1:p.Glu101Gly] [Homozygous: NM_000260.3:c.496del(NP_000251.3:p.Glu166Argfs*5)] [unspecified_reference_CCNF:p.Ser621Gly] [unspecified_reference_PSEN1:p.Ser290Cys] unspecified_reference_CCNF:p.Ser621Gly unspecified_reference_PSEN1:p.Ser290Cys