Aus Stem Cell Registry
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Browse cell lines by donor characteristics, such as biological sex or genetic polymorphisms.
Biological Sex
Female
181 donors
Male
136 donors
Unknown
2 donors
Disease Status
No Disease
113 donors
With Disease
206 donors
Polymorphisms
APOE ε4/4
C9orf72 repeat expansion
C9orf72: Chr9: 13997–68401065 (C9orf72 repeat expansion)
CCNF(unspecified reference):p.(Ser621Gly)
Compound heterozygous: CYP2U1 (unspecified reference):c.471delC p.(Ile158fs), and: CYP2U1(unspecified reference): c.1085T>C p.(Leu362Pro)
Compound heterozygous: CYP2U1(unspecified reference):c.1376C>T p.(Pro459Leu), and: CYP2U1(unspecified reference):c.1462C>T p.(Arg488Trp)
Compound heterozygous: NC_000007.14:g.141596617_141596618del; and: NC_000007.14:g.141596619insT
Compound heterozygous: NC_000023.11:g.154413203_154413213del; and: NC_000023.11:g.154413186_154413210del
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: 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_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: CYP2U1(unspecified reference):c.1085T>C p.(Leu362Pro)
Heterozygous: NM_000257.4:c.4850_4852delAGA p.(Lys1617del)
Heterozygous: NM_000267.3:c.1541_1542delAG
Heterozygous: NM_000267.3:c.6886delT
Heterozygous: NM_000267.3:c.7846C>T
Heterozygous: NM_000335.5:c.392+3A>G
Heterozygous: NM_000454.4:c.229G>T p.(Asp77Tyr)
Heterozygous: NM_000540.3:c.14145_14156delCTACTGGGACAA p.(Asn4715_Asp4718del)
Heterozygous: NM_000540.3:c.14437C>T p.(His4813Tyr)
Heterozygous: NM_000540.3:c.4038C>A p.(Asn1346Lys)
Heterozygous: NM_000540.3:c.7522C>T(NP_000531.2: p.Arg2508Cys)
Heterozygous: NM_001042492.3:c.4043delA
Heterozygous: NM_001042492.3:c.496_497delGT
Heterozygous: NM_001100:c.515C>A p.(Ala172Glu)
Heterozygous: NM_001100:c.541G>A p.(Asp179Asn)
Heterozygous: NM_001100:c.553C>A p.(Arg183Ser)
Heterozygous: NM_001232.4:c.539A>G p.(Lys180Arg)
Heterozygous: NM_001270525.1:c.259G>A p.(Glu87Lys)
Heterozygous: NM_006269.1:c.2098G>T p.(Glu700Ter)
Heterozygous: NM_015629.3:c.1205C>A p.(Ser402Ter)
Heterozygous: NM_015629.3:c.267del p.(Glu89Aspfs*11)
Heterozygous: NM_016146.5:c.454+3A>G
Heterozygous: NM_022124.6:c.1515-12G>A
Heterozygous: PSEN1(unspecified reference):p.(Ala246Glu)
Heterozygous: SCN2A(unspecified reference): p.(Arg1882Gln)
Heterozygous: unspecified_reference: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_SCN2A:p.Glu1211Lys
Heterozygous: unspecified_reference_SOD1:p.Glu101Gly
Heterzygous: CYP2U1(unspecified reference):c.471delC p.(Ile158fs)
Homozygous: NM_000260.3:c.496del(NP_000251.3:p.Glu166Argfs*5)
Homozygous: NM_001100:c.121C>T p.(Arg39Ter)
Homozygous: NM_016146.5:c.454+3A>G
Homozygous: unspecified_reference_COL1A1:c.3936=(p.Trp1312=)
NM_000540.3:c.14145_14156delCTACTGGGACAA p.(Asn4715_Asp4718del)
[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_000350.2:c.768G>T]
[Heterozygous: NM_000454.4:c.229G>T(unspecified_reference_SOD1:p.Asp77Tyr)], [Heterozygous: NM_000454.4:c.229G>T(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: 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], [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_PSEN1:p.Ser290Cys; unspecified_reference_PSEN1:p.Ser290Cys; APOE ɛ3/ɛ3 ]
tm(ACTA1t/t:ACTA1-P2A-tdTomato)
tm(CX3CR1t/+:CX3CR1-IRES-tdTomato-T2A-Nanoluc-pA-FRT-neo-FRT)
unspecified_reference_PSEN1:p.Ser290Cys; APOE ɛ3/ɛ3