Australian Human Pluripotent Stem Cell Registry

Aus Stem Cell Registry

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Disease

Achondrogenesis Type II

Alzheimer Disease, Familial, 3

Amyotrophic Lateral Sclerosis

Ataxia Telangiectasia

attention deficit hyperactivity disorder

autism spectrum disorder

Autism Spectrum Disorder

Broader Autism Phenotype

catecholaminergic polymorphic ventricular tachycardia 2

Celiac disease

Central Chorioretinal Atrophy

Central core disease

Central core disease of muscle

cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

Developmental and Epileptic Encephalopathy

Epilepsy

Familial Digital Arthropathy Brachydactyly

fibromuscular dysplasia

Friedreich Ataxia

hereditary spastic paraplegia 56

Huntington disease

Left bundle branch block

Legg-Calve-Perthes Disease

Metatropic Dysplasia

MYH7-related skeletal myopathy

Nemaline Myopathy

Nemaline Myopathy 3

Neurofibromatosis Type I

nonischemic cardiomyopathy

Osteoarthritis with Mild Chondrodysplasia

Osteogenesis Imperfecta

Parkinson Disease

Pattern dystrophy

phenylketonuria

primary progressive multiple sclerosis

relapsing-remitting multiple sclerosis

Relapsing-Remitting Multiple Sclerosis

Retinitis pigmentosa

Retinitis Pigmentosa

Retinitis Pigmentosa 11

Retinitis Pigmentosa 12

Spondyloepiphyseal Dysplasia

Spontaneous coronary artery dissection

Spontaneous Coronary Artery Dissection

Stargardt Disease

Stargardt Disease 1

Usher syndrome type 1B

Usher Syndrome Type 2

Sex

Male

Female

Other

Unknown

Has Disease

Yes

No

Polymorphism

Heterozygous: NC_000006.12:g.12903725A>G

Heterozygous: NM_006269.1:c.2098G>T(p.E700X)

Heterozygous: NM_015629.3:c.1205C>A(p.Ser402Ter)

Heterozygous: NM_018191.4:c.170del(p.Gly57Glufs*12); Heterozygous: NM_018191.4:c.707del(p.Asn236Thrfs*11)

Heterozygous: unspecified_reference_ACTA1:c.443G>A(p.Gly148Asp)

Heterozygous: unspecified_reference_COL1A1:c.3936G>T(p.Trp1312Cys)

Heterozygous: unspecified_reference_SCN2A:p.Glu1211Lys

Heterozygous: unspecified_reference_SOD1:p.Glu101Gly

Homozygous: unspecified_reference_COL1A1:c.3936=(p.Trp1312=)

NM_000350.2:c.[4139C>T];[5461-10T>C]

NM_000350.2:c.[5461-10T>C;5603A>T];[4163T>C;455G>A]

NM_000350.2:c.[768G>T];[6079C>T]

NM_014014.5:c.[1792C>T];[3341T>C]

NM_201253.3:c.[2555T>C];[3014A>T]

NM_206933.2:c.[949C>A]; [1256G>T]

NM_206933.2:c.[949C>A];[1256G>T]

[Heterozygous: NC_000006.12:g.12903725A>G], [Heterozygous: NC_000006.12:g.12903725A>G]

[Heterozygous: NM_000350.2:c.455G>A], [Heterozygous: NM_000350.2:c.455G>A]

[Heterozygous: NM_000350.2:c.5461-10T>C], [Heterozygous: NM_000350.2:c.5461-10T>C]

[Heterozygous: NM_000350.2:c.768G>T(p.(=))], [Heterozygous: NM_000350.2:c.768G>T(p.(=))]

[Heterozygous: NM_006269.1:c.2098G>T(p.E700X)], [Heterozygous: NM_006269.1:c.2098G>T(p.E700X)]

[Heterozygous: NM_014014.5:c.1792C>T(p.Arg598Cys)], [Heterozygous: NM_014014.5:c.1792C>T(p.Arg598Cys)]

[Heterozygous: NM_015629.3:c.1205C>A(p.Ser402Ter)], [Heterozygous: NM_015629.3:c.1205C>A(p.Ser402Ter)]

[Heterozygous: NM_018191.4:c.170del(p.Gly57Glufs*12)], [Heterozygous: NM_018191.4:c.170del(p.Gly57Glufs*12)]

[Heterozygous: NM_201253.3:c.2555T>C], [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: unspecified_reference_ABCA4:c.5461–10T>C], [Heterozygous: unspecified_reference_ABCA4:c.5461–10T>C]

[Heterozygous: unspecified_reference_ACTA1:c.443G>A(p.Gly148Asp)], [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(p.Trp1312Cys)]

[Heterozygous: unspecified_reference_COL1A1:c.3936G>T], [Heterozygous: unspecified_reference_COL1A1:c.3936G>T]

[Heterozygous: unspecified_reference_SCN2A:p.Glu1211Lys], [Heterozygous: unspecified_reference_SCN2A:p.Glu1211Lys]

[Heterozygous: unspecified_reference_SOD1:p.Glu101Gly], [Heterozygous: unspecified_reference_SOD1:p.Glu101Gly]

[unspecified_reference_CCNF:p.Ser621Gly], [unspecified_reference_CCNF:p.Ser621Gly]

unspecified_reference_ABCA4:c.[5461–10T>C;5603A>T];[6077T>C]

unspecified_reference_CCNF:p.Ser621Gly

Institute

Australian Institute for Bioengineering and Nanotechnology

Bateman-MCRI

Biocells

Centenary Institute of Cancer Medicine and Cell Biology

Clayton-HPI

department of Anatomy and Physiology

Dunwoodie-VCCRI

ES Cell International Pte Ltd.

Genea

Graham-VCCRI

Harry Perkins Institute of Medical Research

Houweling-MCRI

Lamandé-MCRI

Lamandé-Shoulders-MCRI

Lions Eye Institute

Lockhart-MCRI

McLenachan-Chen-LEI

Menzies Institute for Medical Research

Monash Institute of Cognitive and Clinical Neurosciences

Monash Institute of Pharmaceutical Sciences

Monash University

Monash University, Central Clinical School

Murdoch Children's Research Institute

Ngo-UQ

North-MCRI

Ooi-UOW

Petrou-Maljevic-FIN

Prince of Wales Hospital

Schmidt-GENEA

The Florey Institute of Neuroscience and Mental Health

The University of Queensland

University of Calgary

University of Melbourne

University of Wollongong

Victor Chang Cardiac Research Institute

Westmead Institute for Medical Research

Wolvetang-AIBN

Modification

tm(ACTA1t/t:ACTA1-P2A-tdTomato)

Homozygous: unspecified_reference_ACTA1:c.443=(p.Gly148=)

Heterozygous: unspecified_reference_COL2A1:c.2155C>T(p.Arg719Cys)

Heterozygous: unspecified_reference_COL2A1:c.2965C>T(p.Arg989Cys)

Heterozygous: unspecified_reference_COL2A1:c.3508GGT>TCA(p.Gly1170Ser)

Heterozygous: unspecified_reference_COL2A1:c.3337G>T(p.Gly1113Cys)

Homozygous deletion of miR-26b stem-loop

NM_171998.3:c.87_234del(p.Glu30Thrfs*5)

NM_171998.3:c.82_86del(p.Phe28Argfs*9)

Heterozygous: unspecified_reference_TARDBP:c.1144G>A(p.Ala382Thr)

Heterozygous: unspecified_reference_TRPV4:c.819C>G(p.Phe273Leu)

Heterozygous: unspecified_reference_TRPV4:c.2396C>T(p.Phe799Leu)

hPSCReg Identifier	Alternative Names	Maintainer	Producer	Disease as reported	Modified?	Curation Status	Related Lines	Cell type	Cell tissue