characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;EDS;hypermobility type with characteristics of vascular type;hyperextensible;translucent velvety skin;widened atrophic scars;easy bruising and poor wound healing;fatty cysts (shins) and calcified hematomas (knees);premature aging of skin on hands and feet;tall and thin;large eyes;thin nose;receding gums;thin scalp hair;fatigue;joint hypermobility in arms and knees;recurrent joint sprains and dislocations;chronic joint pain;pes planus;clubfeet;muscle hypotonia;varicose veins;delayed motor skill development;anal prolapse;cervical insufficiency;mitral valve prolapse;bone spurs on spine and feet;same donor as GM19689 Fibroblast

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: GM19476 female affected Ehlers-danlos syndrome: type unclassified sample


status: PUBLIC

text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

tag: attribute

text: 71 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

characteristic: organism

text: More than one race

characteristic: race

text: Male

characteristic: sex

text: Parkinson disease

characteristic: tag

text: ND30783 male affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Ehlers-danlos syndrome type iii

text: 49 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;EDS;hypermobility type based on clinical evaluation;small hard lumps under skin at trauma sites;hypermobilty;smooth skin with atypical scarring;frequent joint dislocation and pain since childhood;collagen analysis performed on a skin biopsy was normal ruling out most of the vascular and some forms of the arthrochalasia and dermatosparaxis types of EDS;slow healing;easy bruising;arthritis and joint pain;striae on abdomen;thinning of scarring;increased extensibility at elbows;arthritic changes and decreased movement in fingers;ruptured discs;myopia and a stigmatism;decrease in kyphosis at the neck and increased lordosis in lower back;mother with history of mixed connective tissue disorder disorder;same donor as GM19481 Lymphoblast

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Ehlers-danlos syndrome type iii

text: GM19480 female affected Ehlers-danlos syndrome type iii sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

text: ND30949 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Ehlers-danlos syndrome type iii

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;EDS;hypermobility type based on clinical evaluation;small hard lumps under skin at trauma sites;hypermobilty;smooth skin with atypical scarring;frequent joint dislocation and pain since childhood;collagen analysis performed on a skin biopsy was normal ruling out most of the vascular and some forms of the arthrochalasia and dermatosparaxis types of EDS;slow healing;easy bruising;arthritis and joint pain;striae on abdomen;thinning of scarring;increased extensibility at elbows;arthritic changes and decreased movement in fingers;ruptured discs;myopia and a stigmatism;decrease in kyphosis at the neck and increased lordosis in lower back;mother with history of mixed connective tissue disorder disorder;same donor as GM19480 Fibroblast

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Ehlers-danlos syndrome type iii

text: GM19481 female affected Ehlers-danlos syndrome type iii sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

text: ND30950 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Ehlers-danlos syndrome type iii

text: 45 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;EDS hypermobility type;bruising;chronic joint pain;frequent dislocations and subluxations;joint hypermobility/hyperextensibility;poor wound healing;soft hyperextensible velvet-like skin;affected father;affected paternal aunt is GM19484;same donor as GM19483 Fibroblast

text: ASHKENAZI

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Ehlers-danlos syndrome type iii

text: GM19482 female affected Ehlers-danlos syndrome type iii sample


text: Coriell

text: live

text: Generic

text: 48 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Homo sapiens

text: Caucasian

text: Male

text: ND30951 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Ehlers-danlos syndrome type iii

text: 45 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;EDS hypermobility type;bruising;chronic joint pain;frequent dislocations and subluxations;joint hypermobility/hyperextensibility;poor wound healing;soft hyperextensible velvet-like skin;affected father;affected paternal aunt is GM19485;same donor as GM19482 Lymphoid

text: ASHKENAZI

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Ehlers-danlos syndrome type iii

text: GM19483 female affected Ehlers-danlos syndrome type iii sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND30952 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Ehlers-danlos syndrome type iii

text: 69 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;EDS hypermobility type;bruising;chronic joint pain;frequent dislocations and subluxations;joint hypermobility/hyperextensibility;variable wound healing;soft hyperextensible velvet-like skin;affected brother;affected niece is GM19482;same donor as GM19485 Fibroblast

characteristic: description

text: ASHKENAZI

text: paternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Ehlers-danlos syndrome type iii

text: GM19484 female affected Ehlers-danlos syndrome type iii sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: Fibroblast

text: NINDS Repository

characteristic: family id

text: grandson

text: HD

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Hd gene-positive

text: Asymptomatic

text: ND30967 male unaffected Asymptomatic sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Ehlers-danlos syndrome type iii

text: 69 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;EDS hypermobility type;bruising;chronic joint pain;frequent dislocations and subluxations;joint hypermobility/hyperextensibility;variable wound healing;soft hyperextensible velvet-like skin;affected brother;affected niece is GM19483;same donor as GM19484 Lymphoid

text: ASHKENAZI

characteristic: ethnicity

text: paternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: Ehlers-danlos syndrome type iii

text: GM19485 female affected Ehlers-danlos syndrome type iii sample


text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND30975 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: Ehlers-danlos syndrome type iii

text: 37 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;EDS hypermobility type;velvety;easily bruised;hyperextensible skin;widened atrophic scars;fatty cysts on shin;calcified hematomas on sides of feet;hypermobile joints with chronic joint pain;recurrent sprains of ankles and wrists;recurrent dislocations of digits;ankles and wrists;pes planus;diverticulosis;has had uterine fibroids and endometriomas removed;complains of nausea;vomiting;diarrhea;and abdominal pain;hiatal and right inguinal hernia;frequent respiratory infections;kidney stones;episodes of hypoglycemia;diminished hearing acuity in both ears;mother has bruising problems;paternal half-sister and several maternal uncles also exhibit some EDS symptoms;but no family members have been clinically diagnosed with EDS;same donor as GM19491 Fibroblast

text: WEST GERMAN

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Ehlers-danlos syndrome type iii

characteristic: tag

text: GM19490 female affected Ehlers-danlos syndrome type iii sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

text: ND30976 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Ehlers-danlos syndrome type iii

text: 37 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;EDS hypermobility type;velvety;easily bruised;hyperextensible skin;widened atrophic scars;fatty cysts on shin;calcified hematomas on sides of feet;hypermobile joints with chronic joint pain;recurrent sprains of ankles and wrists;recurrent dislocations of digits;ankles and wrists;pes planus;diverticulosis;has had uterine fibroids and endometriomas removed;complains of nausea;vomiting;diarrhea;and abdominal pain;hiatal and right inguinal hernia;frequent respiratory infections;kidney stones;episodes of hypoglycemia;diminished hearing acuity in both ears;mother has bruising problems;paternal half-sister and several maternal uncles also exhibit some EDS symptoms;but no family members have been clinically diagnosed with EDS;same donor as GM19490 Lymphoid

characteristic: description

text: WEST GERMAN

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Ehlers-danlos syndrome type iii

text: GM19491 female affected Ehlers-danlos syndrome type iii sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 31 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

text: ND30977 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 5 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;EDS type unknown;hyperextensible joints;soft;velvety hyperextensible skin;recurrent umbilical and inguinal hernias;bladder diverticulum;aortic dilatation;same donor as GM19543 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM19542 male affected Ehlers-danlos syndrome: type unclassified sample


text: Coriell

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND30978 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 5 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;EDS type unknown;hyperextensible joints;soft;velvety hyperextensible skin;recurrent umbilical and inguinal hernias;bladder diverticulum;aortic dilatation;same donor as GM19542 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM19543 male affected Ehlers-danlos syndrome: type unclassified sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND30979 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Ehlers-danlos syndrome type iii

text: 54 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: EDS hypermobility type confirmed via clinical evaluation;hyperextensible easily bruised skin;increased suppination of elbows;joint hypermobility of elbows;shoulders;and knees;chronic joint pain;recurrent ankle sprains;frequent subluxations of back;neck and shoulders;multiple surgeries for joint instability and loose ligaments;pes planus;bladder/uterine prolapse;anal prolapse;vaginal vault prolapse;Bell's palsy;Raynaud's disease;chronic fatigue syndrome;severe osteoporosis;episodes of tachycardia;but normal EKG and echocardiogram;fibromyalgia;hypothyroidism (Hashimoto's) confirmed carrier of glycogen storage disease IX;three sons clinically affected with GSD IX;including GM19694 and GM19696;son not clinically affected with GSD IX is GM19698;same donor as GM19647 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Ehlers-danlos syndrome type iii

characteristic: tag

text: Glycogen storage disease viii (ix included)

text: GM19634 female affected Ehlers-danlos syndrome type iii sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Fibroblast

text: NINDS Repository

text: same subject as HQ02584

text: wife

text: Homo sapiens

text: Female

text: Hd gene-negative

text: Asymptomatic

text: ND31008 female unaffected Asymptomatic sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Ehlers-danlos syndrome type iii

text: 54 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: EDS hypermobility type confirmed via clinical evaluation;hyperextensible easily bruised skin;increased suppination of elbows;joint hypermobility of elbows;shoulders;and knees;chronic joint pain;recurrent ankle sprains;frequent subluxations of back;neck and shoulders;multiple surgeries for joint instability and loose ligaments;pes planus;bladder/uterine prolapse;anal prolapse;vaginal vault prolapse;Bell's palsy;Raynaud's disease;chronic fatigue syndrome;severe osteoporosis;episodes of tachycardia;but normal EKG and echocardiogram;fibromyalgia;hypothyroidism (Hashimoto's) confirmed carrier of glycogen storage disease IX;three sons clinically affected with GSD IX;including GM19693 and GM19695;son not clinically affected with GSD IX is GM19698;same donor as GM19634 Lymphoid

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Ehlers-danlos syndrome type iii

text: GM19647 female affected Ehlers-danlos syndrome type iii sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 87 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NINDS Repository

text: same subject as HQ02585

text: proband

text: HD

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Male

text: Huntington disease

text: HD

text: ND31009 male affected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;spouse of GM19634 who is clinically affected with EDS hypermobility type and a confirmed carrier of GSD IX;3 sons clinically affected with GSD IX including GM19694 and GM19696;son not clinically affected with GSD IX is GM19698;same donor as GM19688 Fibroblast

text: ENGLISH/IRISH

characteristic: ethnicity

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Ehlers-danlos syndrome type iii

text: Apparently healthy non-fetal tissue

text: GM19687 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 30 YR

text: Fibroblast

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Hd gene-negative

characteristic: tag

text: Asymptomatic

text: ND31037 male unaffected Asymptomatic sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 57 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;spouse of GM19647 who is clinically affected with EDS hypermobility type and a confirmed carrier of GSD IX;3 sons clinically affected with GSD IX including GM19693 and GM19695;son not clinically affected with GSD IX is GM19698;same donor as GM19687 Lymphoid

characteristic: description

text: ENGLISH/IRISH

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Ehlers-danlos syndrome type iii

text: Apparently healthy non-fetal tissue

text: GM19688 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 33 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NINDS Repository

text: daughter

text: HD

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: ND31038 female affected Huntington disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Ehlers-danlos syndrome type iii

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected with GSD IX;at 9 months had cessation of growth;excess weight gain (75th percentile) and enlarged liver;treated with high protein diet and Viokase;weight was over 95% by 18 months and off the charts by age 30 months;weight gain began to drop at age 4;at age 6 years height and weight were normal;learning disability associated with spatial sequential issues;symptoms of Ehlers-Danlos syndrome hypermobility type include chronic joint pain in shoulders and knees;pes planus;and bilateral hiatal hernias;diagnosis of EDS has not been confirmed clinically;mother (GM19647) is clinically affected with EDS hypermobility type;clinically affected father is GM19688;2 brothers clinically affected with GSD IX;including GM 19695;brother not clinically affected with GSD IX is GM19698;same donor as GM19694 Lymphoid

text: SCOTTISH/IRISH/ENGLISH

characteristic: ethnicity

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Ehlers-danlos syndrome type iii

text: GM19693 male affected Ehlers-danlos syndrome type iii sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: child

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND31056 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Ehlers-danlos syndrome type iii

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with GSD IX;at 9 months had cessation of growth;excess weight gain (75th percentile) and enlarged liver;treated with high protein diet and Viokase;weight was over 95% by 18 months and off the charts by age 30 months;weight gain began to drop at age 4;at age 6 years height and weight were normal;learning disability associated with spatial sequential issues;symptoms of Ehlers-Danlos syndrome hypermobility type include chronic joint pain in shoulders and knees;pes planus;and bilateral hiatal hernias;diagnosis of EDS has not been confirmed clinically;mother (GM19634) is clinically affected with EDS hypermobility type;clinically affected father is GM19687;2 brothers clinically affected with GSD IX;including GM 19696;brother not clinically affected with GSD IX is GM19698;same donor as GM19693 Fibroblast

characteristic: description

text: SCOTTISH/IRISH/ENGLISH

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ehlers-danlos syndrome type iii

text: GM19694 male affected Ehlers-danlos syndrome type iii sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 33 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

text: ND31057 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Ehlers-danlos syndrome type iii

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected with GSD IX;diagnosed at three months based on low muscle tone and failure to thrive;prolonged jaundice in infancy;some hypoglycemia treated with pancreatic enzymes and frequent meals;hepatomegaly in childhood;macroglossia;severe sleep apnea present since infancy;frequent respiratory infections;symptoms of EDS hypermobility type include: chronic joint pain in knees;shoulders;and neck;two jaw dislocations during surgery;pes planus;muscle hypotonia;and hiatal hernia;diagnosis of EDS could not be made based on clinical findings at the time of evaluation;mother (GM19647) is clinically affected with EDS hypermobility type;clinically unaffected father is GM19688;2 brothers affected with GSD IX including GM19693;brother not clinically affected with GSD IX is GM19698;same donor as GM19696 Lymphoid

text: SCOTTISH/IRISH/ENGLISH

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ehlers-danlos syndrome type iii

text: Glycogen storage disease viii (ix included)

text: GM19695 male affected Ehlers-danlos syndrome type iii sample


text: Coriell

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND31058 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Ehlers-danlos syndrome type iii

text: 22 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with GSD IX;diagnosed at three months based on low muscle tone and failure to thrive;prolonged jaundice in infancy;some hypoglycemia treated with pancreatic enzymes and frequent meals;hepatomegaly in childhood;macroglossia;severe sleep apnea present since infancy;frequent respiratory infections;symptoms of EDS hypermobility type include: chronic joint pain in knees;shoulders;and neck;two jaw dislocations during surgery;pes planus;muscle hypotonia;and hiatal hernia;diagnosis of EDS could not be made based on clinical findings at the time of evaluation;mother (GM19634) is clinically affected with EDS hypermobility type;clinically unaffected father is GM19687;2 brothers affected with GSD IX including GM19694;brother not clinically affected with GSD IX is GM19698;same donor as GM19695 Fibroblast

text: SCOTTISH/IRISH/ENGLISH

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ehlers-danlos syndrome type iii

text: GM19696 male affected Ehlers-danlos syndrome type iii sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND31319 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Not clinically affected with GSD IX;symptoms of EDS hypermobility type include: joint soreness in shoulder and neck off and on;knee with pain off and on;diagnosis of EDS has not been made clinically;mother (GM19647) is clinically affected with EDS hypermobility type;clinically unaffected father is GM19688;3 clinically affected brothers with GSD IX including GM19693 and GM19695

characteristic: description

text: SCOTTISH/IRISH/ENGLISH

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ehlers-danlos syndrome type iii

text: Apparently healthy non-fetal tissue

text: GM19698 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 59 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Female

text: ND31320 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected carrier of GSD IX;chronic hip pain;pes planus;uterine prolapse;weak vaginal wall streched at child birth;congenital snail track degeneration of the retina repaired with laser surgery;sister (GM19634) is clinically affected with EDS hypermobility type

text: SCOTTISH/ENGLISH/FRENCH

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Ehlers-danlos syndrome type iii

text: GM19743 female unaffected Ehlers-danlos syndrome type iii sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: same subject as ND32954

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND31430 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 86 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hyperextensible skin;hypermobile shoulder;pes planus;can touch tongue to nose;severe osteoporosis;clinically affected daughter is GM19634

text: SCOTTISH/ENGLISH

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ehlers-danlos syndrome type iii

characteristic: tag

text: GM19744 female unaffected Ehlers-danlos syndrome type iii sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: same subject as ND31508

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND31507 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Ehlers-danlos syndrome type iii

text: 88 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected with GSD IX;hyperextensible skin;easy bruising;hypermobile elbows and shoulders;shoulder adhesions;back and joint pain;pes planus;sleep apnea;daughter (GM19634) confirmed carrier of GSD IX and clinically affected with EDS hypermobility type;3 grandsons clinically affected with GSD IX;including GM19694 and GM19696;grandson not clinically affected with GSD IX is GM19698

text: SCOTTISH/FRENCH

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Ehlers-danlos syndrome type iii

text: GM19745 male affected Ehlers-danlos syndrome type iii sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 71 YR

text: Fibroblast

text: NINDS Repository

text: same subject as ND31507

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Parkinson disease

text: ND31508 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 85 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hyperextensible skin;receding gums;thin scalp hair;hypermobile joints;varicose veins;cervical laxity

text: NORWEGIAN

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: GM19829 female affected Ehlers-danlos syndrome: type unclassified sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 63 YR

text: Fibroblast

text: NINDS Repository

text: same subject as ND06363

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinson disease

characteristic: tag

text: ND31618 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 21 MO

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Severe acquired failure to thrive with striking sparing of the head circumference;widely open anterior fontanelle;right-sided hearing impairment;selective expressive language impairment;severe dysphonia;unusual skeletal dysplasia (small fingers;short radii and possibly hypoplastic odontoid);nonspecific MRI changes: ventricular enlargement and periventricular white matter T2 signal prolongation and enlarged subarachnoid spaces);subtle dysmorphic features: mild hypertelorism;subtle downslanting of the palpebral fissures;depressed nasal bridge and subtle indentation of the tip of the tongue at the midline;history of recurrent lung infections believed to be secondary to chronic aspiration

characteristic: description

text: IRISH/SCOTTISH/DUTCH

text: 46;XX;der(6)(6qter>6p25::D or Gp11.2>pter).ish der(6)(6pTEL48-;D6Z1+;D15Z1-)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Derivative chromosome

text: GM19926 female unaffected Derivative chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 50 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: same subject as ND32955

text: Polish

characteristic: family id

text: proband

text: MAPT

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND31626 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;father of GM19978;negative for NSD1 mutations.

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Sotos syndrome

text: GM19974 male unaffected Sotos syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: same subject as ND32956

text: Polish

characteristic: ethnicity

text: brother

text: MAPT

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: ND31627 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 24 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;mother of GM19977;negative for NSD1 mutations.

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Sotos syndrome

text: GM19975 female unaffected Sotos syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 69 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: same subject as ND16281

characteristic: family id

text: proband

text: GBA

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND31630 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;mother of GM19978;negative for NSD1 mutations.

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Sotos syndrome

text: GM19976 female unaffected Sotos syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 51 YR

text: Fibroblast

text: NINDS Repository

text: same subject as ND05178

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinson disease

text: ND31717 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;born at term;birthweight 3.5 kg (50th centile);jaundice and hypotonia in neonatal period;presented with moderate-severe intellectual impairment;overgrowth;and Sotos facial gestalt;at 20 months height was 90th centile;weight was >99.6th centile;head circumference was 9th centile;reflex anoxic seizures;ankle contractures;no family history of Sotos syndrome or intellectual impairment;unaffected mother (GM19975) has no NSD1 mutations;normal bone age;46;XY;negative Fragile X testing;donor subject found to carry an insertion;6450-1insC;in exon 22 of the NSD1 gene causing a frameshift mutation (K2151fsX2165).

text: proband

characteristic: gene

text: 1-BP INS

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Sotos syndrome

characteristic: tag

text: GM19977 male affected NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE AND TRITHORAX DOMAIN PROTEIN 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 80 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND31807 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 16 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;born at 35-36 weeks gestation;birth weight 3.18 kg (91st centile);jaundice and feeding difficulty in neonatal period;severe intellectual impairment;overgrowth;height 91-98th centile;weight >99.6th centile;head circumference 98th centile;no family history of Sotos syndrome or intellectual impairment;unaffected parents negative for NSD1 mutations;mother is GM19976;father is GM19974;advanced bone age;46;XY;negative Fragile X testing;donor subject found to have missense mutation;a G>A change at nucleotide 6014 in exon 20 of the NSD1 gene (6014G>A) causing an arginine to glutamine change at codon 2005 Arg2005Gln (R2005Q) .

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Sotos syndrome

text: GM19978 male affected NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE AND TRITHORAX DOMAIN PROTEIN 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND31809 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Vwm (ovarioleukodystrophy included)

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;patient #944 in Fogli et al;Am J Hum Genet 72:1544-1550;2003;bilateral cataracts in first week of life were excised with implantation of intraocular lens;walked at age 12 mo;difficulties in school;mild developmental delay;mild thoracic dextroscoliosis;bilateral pes cavus;menarche at age 14 yr;amenorrhea at age 26 yr;atrophied ovaries;spasticity;gait instability at age 25 yr;walker used at age 30 yr;hypophonia with mild dysarthria observed;tongue weakness and hyperreflexia;sphincter disfunction at age 26 yr;optic atrophy;visual loss at age 28 yr;glaucoma with arcuate scotoma of left eye;IQ=65 at age 30 yr;MRI showed generalized volume loss of cortex and white matter;microcephaly;visual motor difficulties;poor executive function;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 512 of the EIF2B2 gene (512C>T);resulting in a ser171-to-phe mutation Ser171Phe (S171F) and the second allele has a 6 bp deletion (ATGGCT)/2 bp insertion (TG) at nucleotide 607;resulting in a frameshift at met203

characteristic: gene

text: 6-BP DEL/2-BP INS

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Eukaryotic translation initiation factor 2b, subunit 2

text: Leukoencephalopathy with vanishing white matter

text: Vwm (ovarioleukodystrophy included)

text: GM19988 female affected Vwm (ovarioleukodystrophy included) sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND31810 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 3 MO

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;intrauterine growth retardation;congenital heart defects including ventricular septal defect and patent ductus arteriosus;microphthalmia;corneal clouding;dysplastic hips.

text: 46;XX;del(21)(pter>q22.1:).ish del(21)(wcp21+;D21S1575-);46;XX;del(21)(pter>q22.2:).ish del(21)(wcp21+;D21S1575-)

characteristic: karyotype

text: Homo sapiens

text: African American

text: Female

text: Chromosome deletion

text: Copy number variation (cnv) refernece panel 02

text: GM19999 female unaffected Chromosome deletion sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND31811 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: NIPBL

text: 1 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;pregnancy complicated by IUGR and oligohydramnios;born at 38 weeks gestation;birthweight 1637g (<10th percentile);birthlength 40.5 cm (<10th percentile);head circumference at birth 29 cm (<10th percentile);poor respiratory effort in the delivery room necessitated intubation;GE reflux;at one day of life EKG showed left axis deviation;nonspecific intraventricular block and left ventricular hypertrophy with repolarization abnormality but repeat EKG at 5 days of life was normal;ECHO showed patent foramen ovale and some tricuspid regurgitation;moderate bilateral hydronephrosis;undescended testicles and midline chordee;ptosis;glaucoma;single left forearm bone with presence only of a thumb and 2nd finger;contracture of elbow on left;right hand showed distal hypoplasia and synphalangism of the 5th finger;head ultrasound on day one of life showed enlargement of cisterna magna;arachnoid cyst noted on brain MRI;brain CT showed small right posterior fossa subdural hemorrhage;severe hearing loss bilaterally per failed BAER in neonatal period and at 6 months of age;brachycephaly;depressed nasal bridge;synophyrys;thin upper lip;hirsutism;thick;curly eyelashes;high;ridged palate;posteriorly rotated and cupped ears;hypoplastic nipples and umbilicus;small feet;history of 3 hospitalizations involving feeding and respiratory problems;at 13 months of age: height was 59.5 cm (<5th percentile);weight was 4.75 kg (<5th percentile);head circumference was 39.25 cm (<3rd percentile);donor subject carries a 5721del5 frameshift mutation in exon 31 of the NIPBL gene. The deletion begins with a change in the third codon for Asparagine at position 1907;which is therefore conserved. The deletion results in a stop codon 13 amino acids after this site at position 1920 (N1907fsX13).

characteristic: description

text: CAUCASIAN/HISPANIC

characteristic: ethnicity

text: NIPBL

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: More than one race

characteristic: race

text: Male

text: NIPBL

text: Nipped-b-like

text: Cornelia de lange syndrome 1

text: GM20000 male affected NIPBL sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 23 YR

text: B-Lymphocyte

text: NINDS Repository

text: child

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND31812 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Glucosidase acid alpha

text: 4 MO

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: SV40-Transformed fibroblast culture of GM04912;biventricular hypertrophy;enlarged tongue;areflexia;decreased muscle tone;slightly enlarged liver;respiratory difficulties;fever;and cyanosis;expired at age 6 months;negative family history;no detectable mRNA for GAA;no GAA protein detected by antibody;deficient acid-alpha-1;4 glucosidase activity (0.21%);normal debrancher enzyme activity;untransformed fibroblast culture from donor subject showed the donor to be a compound heterozygote: allele one has a deletion of a T at nucleotide 1441 (1441delT) in exon 10 of the GAA gene resulting in a frameshift and premature termination 39 amino acids downstream from the mutation site;allele two carries a G>A transition at nucleotide 2237 in exon 16 (2237G>A) which results in the conversion of a tryptophan at amino acid 746 to a nonsense codon Trp746Ter (W746X)

text: proband

text: Homo sapiens

text: Black

text: Male

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM20005 male affected Glucosidase acid alpha sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 73 YR

text: Fibroblast

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Hd gene-negative

text: Asymptomatic

text: ND31845 female unaffected Asymptomatic sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Farber lipogranulomatosis

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;severe (classical) subtype;consanguineous parents;died at age 2;donor subject is homozygous for a A>G transition at nucleotide 107 in exon 2 of the ASAH gene 107A>G resulting in a substitution of cysteine for tyrosine at codon 36 Tyr36Cys(Y36C) in the alpha subunit.

characteristic: description

text: TUNISIAN

characteristic: ethnicity

text: ASAH

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Other

text: Male

text: Farber lipogranulomatosis

text: GM20015 male affected Farber lipogranulomatosis sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 71 YR

text: Fibroblast

text: NINDS Repository

text: sister

text: HD

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Hd gene-positive

text: Asymptomatic

text: ND31846 female unaffected Asymptomatic sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Farber lipogranulomatosis

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;combined Farber and Sandhoff disease (Farber disease subtype 6);consanguineous parents;died at 2.5 years;donor subject is homozygous for a A>G transition at nucleotide 958 in exon 12 of the ASAH gene 958A>G resulting in a substitution of aspartic acid for asparagine at codon 320 Asn320Asp (N320D) in the AC beta subunit.

text: TURKISH

text: ASAH

text: Homo sapiens

text: Other

text: Female

characteristic: sex

text: Farber lipogranulomatosis

characteristic: tag

text: GM20016 female affected Farber lipogranulomatosis sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 79 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: same subject as ND35367 (iPSC)

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND31924 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Farber lipogranulomatosis

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;neurologic-progressive disease (Farber disease subtype 5);died at age 3;donor subject has one allele that has a G>T transversion of the first nucleotide in intron 13 of the ASAH gene IVS13+1G>T resulting in a deletion of amino acids 348 to 366 (exon 13) in the beta subunit del 348-366 and a mutation in the second allele could not be identified.

characteristic: description

text: ASAH

text: Homo sapiens

text: Male

text: Farber lipogranulomatosis

text: GM20017 male affected Farber lipogranulomatosis sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 47 YR

text: Fibroblast

text: NINDS Repository

text: same subject as ND16680

characteristic: family id

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND31960 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Farber lipogranulomatosis

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;joint lesions containing subcutaneous nodules;hoarseness;hepatosplenomegaly;trachael compression;died at 22 months;AC activity in cultured skin fibroblasts was 5% of normal levels;donor subject is homozygous for a C>A transversion at nucleotide 665 in exon 9 of the ASAH gene 665C>A resulting in a subsitution of lysine for threonine at codon 222 Thr222Lys(T222K) . Donor subject is a compound heterozygote for two polymorphisms: one allele has a A>G transition at nucleotide 214 in exon 3 of the ASAH gene 214A>G resulting in a substitution of valine for methionine at codon 72 Met72Val(M72V) and a second allele has a G>A transition at nucleotide 277 in exon 4 of the ASAH gene 277G>A resulting in a substitution of isoleucine for valine at codon 93 Val93Ile(V93I) .

text: BELGIAN

characteristic: ethnicity

text: ASAH

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Farber lipogranulomatosis

text: GM20018 female affected Farber lipogranulomatosis sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 52 YR

text: Fibroblast

text: NINDS Repository

text: same subject as ND28300

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Parkinson disease

characteristic: tag

text: ND32157 female affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Farber lipogranulomatosis

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;collected in Germany in a community of mixed ethnicity;mild disease (Farber disease subtype 3);donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 991 in exon 12 of the ASAH gene 991G>A resulting in a substitution of asparagine for aspartic acid at codon 331 Asp331Asn(D331N) and a second allele has a G>T transversion at nucleotide 412 in exon 6 of the ASAH gene 412G>T resulting in a deletion of amino acids 128 to 152 (exon 6) del 128-152 .

text: ASAH

text: Homo sapiens

text: Female

text: Farber lipogranulomatosis

text: GM20019 female affected Farber lipogranulomatosis sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 58 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: same subject as ND34393;ND34394 (iPSC sub-clones)

characteristic: description

characteristic: family id

text: twin brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND32320 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 4 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Dysmorphic facies;micrognathia;right upper eyelid palsy;agenesis corpus callosum;nevus flameus of the right forehead;bilateral brachyclinodactyly of fifth fingers;right post-axial polydactyly

text: 46;XY;dup(3)(pter>q29::q21>qter).ish dup(3)(wcp3+;D3S4560+);46;XY;dup(3)(pter>q29::q21>qter).ish dup(3)(wcp3+;D3S4560+).arr 3q22.2q29(136044785-197137370)x3

characteristic: karyotype

text: Homo sapiens

text: Hispanic/Latino

text: Male

text: Duplicated chromosome

text: GM20022 male unaffected Copy number variation (cnv) reference panel sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: same subject as ND32943

text: twin sister

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: ND32386 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 52 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Turner syndrome;family history of heart disease (father;maternal grandfather and maternal cousin);cancer (maternal grandmother with brain tumor);kidney disease (mother);migraines (sister) and mild depression (father on Prozac)

text: 45;X;45;X.arr Xp22.33q28(109805-154887040)x1

text: Homo sapiens

text: Female

characteristic: sex

characteristic: tag

text: Turner syndrome

text: GM20027 female affected Copy number variation (cnv) reference panel sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 44 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: MAPT

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: ND32387 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Insulin receptor

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;marked hirsutism;died at age 3 months;elevated serum insulin (1446 pmol/liter);partial reduction (~45%) in the number of high-affinity insulin-binding sites;donor subject is homozygous for an A>G transition of the INSR gene resulting in a substitution of aspartic acid for asparagine at codon 431 Asn431Asp(N431D);exon counting and quantitative PCR have not been done to confirm homozygosity;but mutation was found in both parents

characteristic: description

text: SCOTTISH

characteristic: ethnicity

text: INSR

text: Homo sapiens

text: Caucasian

text: Male

text: INSR

text: Insulin receptor

text: Leprechaunism

text: GM20031 male affected Insulin receptor sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 75 YR

characteristic: age

text: Fibroblast

text: NINDS Repository

text: same subject as ND32463

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND32462 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Insulin receptor

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hirsutism;cardiomyopathy;died at age 3 months;increased circulating insulin levels (above 6000 pmol/liter);reduced insulin binding;donor subject is a compound heterozygote: one allele has a T>A transversion of the INSR gene resulting in a substitution of glutamine for leucine at codon 93 Leu93Gln(L93Q) and a second allele has a C>A transversion of the INSR gene resulting in a substitution of a stop codon for a tyrosine at codon 1122 Tyr1122Stop(Y1122X) .

text: DUTCH

text: INSR

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: INSR

text: Insulin receptor

text: Leprechaunism

text: GM20032 female affected Insulin receptor sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NINDS Repository

text: aunt

text: Homo sapiens

text: Female

text: Hd gene-negative

characteristic: tag

text: Asymptomatic

text: ND32603 female unaffected Asymptomatic sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Insulin receptor

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;typical dysmorphic features of leprechaunism;acanthosis nigricans;died at age 9 months;insulin level of 1800 pmol/liter;high-affinity insulin-binding sites markedly reduced (by ~70%);donor subject is homozygous for a C>T transition of the INSR gene resulting in a substitution of leucine for serine at codon 323 Ser323Leu(S323L);exon counting and quantitative PCR have not been done to confirm homozygosity;but mutation was found in both parents

text: TURKISH

text: INSR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: INSR

text: Insulin receptor

text: Leprechaunism

text: GM20033 male affected Insulin receptor sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 58 YR

characteristic: age

text: Fibroblast

text: NINDS Repository

text: same as subject ND20520

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND32697 male affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Insulin receptor

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;died at 3 months of age;reduced amont of insulin-binding sites;donor subject carries a homozygous mutation in the INSR gene resulting in a substitution of proline for leucine at codon 233 Leu233Pro(L233P);exon counting and quantitative PCR have not been done to confirm homozygosity;but mutation was found in both parents

text: DUTCH

characteristic: ethnicity

text: INSR

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: INSR

text: Insulin receptor

text: Leprechaunism

text: GM20034 male affected Insulin receptor sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 43 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: same subject as ND32945

characteristic: family id

text: first cousin once removed

text: MAPT

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Pallidopontonigral degeneration

characteristic: tag

text: ND32854 male unaffected Pallidopontonigral degeneration sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Insulin receptor

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;hirsutism;acanthosis nigricans;extreme hyperinsulinism (19;500 pmol/liter);died at age 9 months;high-affinity insulin-binding sites markedly reduced (by ~70%);donor subject is a compound heterozygote: one allele has a C>T transition of the INSR gene resulting in a substitution of tryptophan for arginine at codon 1092 Arg1092Trp(R1092W) and a second allele has a C>T transition of the INSR gene resulting in a substitution of a stop codon for arginine at codon 897 Arg897Stop(R897X);the Arg897Stop mutation apparently resulted from a novel germline mutation because the parents did not carry this mutation and the biological relationship was confirmed.

text: KURDISTANI

text: INSR

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: INSR

text: Insulin receptor

text: Leprechaunism

text: GM20035 male affected Insulin receptor sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 43 YR

characteristic: age

text: Fibroblast

text: NINDS Repository

text: same subject as ND32854

characteristic: description

text: first cousin once removed

text: MAPT

text: Homo sapiens

text: Caucasian

text: Male

text: Pallidopontonigral degeneration

text: ND32945 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Ehlers-danlos syndrome type iii

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hypermobility type;onset at age 9;multiple joint surgeries;smooth;velvety skin;moderate bruising;soft;doughy texture to skin;subcutaneous spheroids on legs;arms and lip;joint hypermobility;recurrent joint sprains of knees;shoulders;hips;and elbows;recurrent joint dislocations including knees;shoulders;and elbows;pes planus;chronic joint pain;joint laxity;thin scalp hair;mother and grandfather also affected;same donor as GM20072 (myoblast).

text: SCOTTISH/NATIVE AMERICAN

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Other

characteristic: race

text: Female

text: Ehlers-danlos syndrome type iii

text: GM20071 female affected Ehlers-danlos syndrome type iii sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 44 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NINDS Repository

text: same subject as ND11268

characteristic: family id

text: sister

text: MAPT

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND32951 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Vwm (ovarioleukodystrophy included)

text: 24 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;walked at 11 months;talked at 12 months;toilet trained at 22 months;balance and walking difficulty noted at 3 years;progressive course;dysarthria;tremor;rapid horizontal tremor;temporarily lost ability to walk at age 3 1/2 following viral flu;ataxic gait;cerebellar tremor limiting motor functions;scoliosis;needs magnification but vision is relatively stable;variable regression in functional status;no history of dysphagia;diffuse cavitation of white matter on MRI;donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 638 of the EIF2B2 gene 638A>G resulting in a substitution of glycine for glutamic acid at codon 213 Glu213Gly(E213G) and a second allele has a G>C transversion at nucleotide 910 of the EIF2B2 gene 910G>C resulting in a substitution of a termination codon for glutamic acid at codon 304 Glu304Ter(E304X);affected sibling is GM20074.

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Eukaryotic translation initiation factor 2b, subunit 2

text: Leukoencephalopathy with vanishing white matter

text: Vwm (ovarioleukodystrophy included)

text: GM20073 female affected Vwm (ovarioleukodystrophy included) sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 60 YR

characteristic: age

text: Fibroblast

text: NINDS Repository

text: same subject as ND31430 <FONT color='red'> ATTENTION - ND32954 FIBROBLAST CELL LINE HAS BEEN GROWN WITH ANTIBIOTICS;SEE CULTURE PROTOCOLS TAB FOR MORE DETAILS </FONT>

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND32954 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Vwm (ovarioleukodystrophy included)

text: 21 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;head circumference at birth 33.5 cm;walked at 12 months;spoke first words at 12-13 months;instability and imbalance began at 12 months;developed slowly progessive spastic paraparesis with marked impairment in coordination;balance and ambulation;in wheelchair by age 5;impaired speech with a slowed;spastic quality;regression in functional status after flu or fever;needs magnification for vision;isolated episode of dysphagia;diffuse cavitation of white matter on MRI;donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 638 of the EIF2B2 gene 638A>G resulting in a substitution of glycine for glutamic acid at codon 213 Glu213Gly(E213G) and a second allele has a G>C transversion at nucleotide 910 of the EIF2B2 gene 910G>C resulting in a substitution of a termination codon for glutamic acid at codon 304 Glu304Ter(E304X);affected sibling is GM20073.

characteristic: description

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Vwm (ovarioleukodystrophy included)

text: GM20074 male affected Vwm (ovarioleukodystrophy included) sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 50 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NINDS Repository

text: same subject as ND31626 <FONT color='red'> ATTENTION - ND32955 FIBROBLAST CELL LINE HAS BEEN GROWN WITH ANTIBIOTICS;SEE CULTURE PROTOCOLS TAB FOR MORE DETAILS </FONT>

text: Polish

characteristic: ethnicity

text: proband

text: MAPT

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND32955 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Duplicated chromosome

text: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;birth weight 6 pounds 1/4 ounce at term;feeding problems during infancy;mental retardation;seizure disorder developed at age 7 years;stopped taking oral feeds at age 14 years when malrotation was identified;severely delayed developmental milestones: wheelchair bound;nonverbal;can not feed self;totally dependent for toileting needs;excessive drooling;normal pinna;broad;flat forehead;flat malar processes;flexion contractions of the distal interphalangeal joints on the fourth and fifth digits of the left hand and an absent flexion crease of the left distal interphalangeal joint on the fifth finger;flexor tone;two to three beats of clonus noted in lower extremities;tight heel cords bilaterally;flexion contractures of knees and elbows bilaterally;widened reflex zone at knees and hyperactive patellar reflex;exotropia;hyperpigmented macule on chest with irregular borders.

text: AFRICAN-AMERICAN

text: 46;XX;dup(18)(pter>q21.3::q12.2>qter).ish dup(18)(wcp18+)

characteristic: karyotype

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Encephalopathy of childhood (lennox-gastaut syndrome)

text: Duplicated chromosome

text: GM20087 female affected Duplicated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 47 YR

text: Fibroblast

text: NINDS Repository

text: same subject as ND31627 <FONT color='red'> ATTENTION - ND32956 FIBROBLAST CELL LINE HAS BEEN GROWN WITH ANTIBIOTICS;SEE CULTURE PROTOCOLS TAB FOR MORE DETAILS </FONT>

text: Polish

characteristic: family id

text: brother

text: MAPT

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND32956 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Glucosidase acid alpha

text: 5 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;presented at age 5 months with hypotonia;cardiomegaly;hepatosplenomegaly;developmental delay;and vacuolar myopathy;absence of acid alpha-glucosidase activity in muscle;donor subject is a compound heterozygote: one allele has a splice site mutation;IVS18 + 2T>A;and a second allele has a large 8.26 kb deletion extending from IVS7 to IVS15.

characteristic: description

text: EL SALVADORIAN

text: GAA

text: 8.26KB DEL (IVS7 to IVS15)

text: Homo sapiens

characteristic: organism

text: Hispanic/Latino

text: Female

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM20088 female affected Glucosidase acid alpha sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 74 YR

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Parkinson disease

text: ND32975 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Glucosidase acid alpha

text: 4 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;presented at age 4 months with severe obstructive hypertrophic cardiomegaly;hypotonia;failure to thrive;and global developmental delay;deficiency of acid alpha-glucosidase activity in muscle;isolated left cleft lip with intact palate;died at age 8 months;donor subject is homozygous for an intragenic deletion of exon 18 del ex18;mother is GM20123;both parents confirmed heterozygotes for GAA gene deletion of exon 18.

text: DUTCH

characteristic: ethnicity

text: proband

text: GAA

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM20089 female affected Glucosidase acid alpha sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 69 YR

text: Fibroblast

text: NINDS Repository

characteristic: family id

text: sister

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

characteristic: tag

text: ND32976 female affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Glucosidase acid alpha

text: 6 MO

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;enzyme activity in fibroblasts was <0.1% of normal;donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1933 in exon 14 of the GAA gene 1933G>A resulting in a substitution of asparagine for aspartic acid at codon 645 Asp645Asn(D645N) and a second allele has an insertion of a guanosine residue at nucleotide 2243 in exon 16 of the GAA gene 2243insG .

characteristic: description

text: CELTIC

text: GAA

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM20090 male affected Glucosidase acid alpha sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Female

text: Hd gene-negative

text: Asymptomatic

text: ND33391 female unaffected Asymptomatic sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Glucosidase acid alpha

text: 2 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;presented at birth with bilateral severe cleft lip and palate;deep sacral dimple;and bilateral hydrocele;hypertrophic cardiomyopathy;hypotonia;head lag;and hepatomegaly noted at age 2 months;deficiency of acid alpha-glucosidase in fibroblasts (0.2 versus control of 31 nmoles substrate hydrolyzed/mg protein);high-resolution chromosomes normal;died at age 14 months;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 172 in exon 2 of the GAA gene 172C>T resulting in a substitution of a termination codon for glutamine at codon 58 Gln58Stop(Q58X) and a second allele has a single nucleotide deletion (threonine) at position 525 in exon 2 of the GAA gene del525T .

text: GAA

text: 1-BP DEL

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM20091 male affected Glucosidase acid alpha sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Huntington disease

text: 29 YR

text: Fibroblast

text: NINDS Repository

characteristic: family id

text: proband

text: HD

characteristic: gene

text: CAG: 57

text: Homo sapiens

text: Female

characteristic: sex

text: Huntington disease

text: HD

text: ND33392 female affected Huntington disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Glucosidase acid alpha

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;presented with cardiomegaly and hypotonia prior to 5 months of age;muscle biopsy demonstrated intralysosomal glycogen accumulation;fibroblasts were acid alpha-glucosidase deficient;died prior to age 2 years;donor subject is a compound heterozygote: maternal allele has a C>G transversion at nucleotide 1941 in exon 14 of the GAA gene 1941C>G resulting in a substitution of tryptophan for cysteine at codon 647 Cys647Trp(C647W) and the paternal allele has a de novo 13 nt deletion del nt 1456-1468 resulting in a reading frameshift and a premature termination signal upstream of the enzyme catalytic site. Paternity was confirmed by comparison of multiple unlinked polymorphic markers. In addition two cis variants were identified in the GAA gene of the healthy father;which were also present in the patient: { 2065G>A Glu689Lys (E689K)} and { 2238G>C Trp746Cys (W746C)}.

text: PORTUGUESE/?

characteristic: ethnicity

text: GAA

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Glucosidase acid alpha

characteristic: tag

text: GAA

text: Glycogen storage disease ii

text: GM20092 female affected Glucosidase acid alpha sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 59 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND33480 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Glucosidase acid alpha

text: 3 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;donor subject is homozygous for a C>T transition at nucleotide 2560 in exon 18 of the GAA gene 2560C>T resulting in a substitution of a nonsense codon at amino acid 854 Arg854Ter (R854X) .

characteristic: description

text: AFRICAN-AMERICAN

text: GAA

text: Homo sapiens

text: Black

text: Male

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM20122 male affected Glucosidase acid alpha sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND33481 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject is heterozygous for an intragenic deletion of exon 18 del ex18;affected child is GM20089.

text: DUTCH

characteristic: ethnicity

text: mother

text: GAA

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM20123 female unaffected Glucosidase acid alpha sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 62 YR

characteristic: age

characteristic: cell line

text: Fibroblast

text: NINDS Repository

text: same subject as ND34266

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

characteristic: tag

text: ND34265 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Glucosidase acid alpha

text: 4 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;classic infantile onset with cardiomegaly;hypertrophic cardiomyopathy;classic EKG findings;macroglossia;hypotonia;glycogen storage in lysosomes;alpha glucosidase activity = 0.0 ug/mg prot/hr (normal = 137.1 to 1025.9);donor subject is a compound heterozygote: one allele has an intragenic deletion of exon 18 del ex18 and a second allele has a single nucleotide deletion (threonine) at position 525 in exon 2 of the GAA gene del525T .

text: GAA

characteristic: mutation

text: 1-BP DEL

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM20124 male affected Glucosidase acid alpha sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Parkinson disease familial type 1

text: 55 YR

text: Stem cell

text: NINDS Repository

text: same sample as ND00139 (lymphoblastoid cell line);ND27760 (fibroblast);GM15844

characteristic: description

text: Scottish;German;Irish;English

text: proband

text: SNCA

characteristic: karyotype

text: TRIPLICATION

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease familial type 1

text: ND34391 female affected Parkinson disease familial type 1 sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Microphthalmos;blepharophimosis;ptosis;malrotation;mental retardation;scoliosis

text: 46;X;der(Y)(Ypter>Yq12::10q23.2>10qter).ish der(Y)(SRY+;RP11-539D10+;DYZ1+;D10S2490+;wcp10+)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Chromosome deletion

text: GM20125 male affected Aneuploid chromosome number - non-trisomic sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 58 YR

characteristic: age

characteristic: cell line

text: Stem cell

text: NINDS Repository

text: <FONT color='red'> same subject as ND34394 (iPSC sub-clone) </FONT> and ND32320 (whole-blood derived DNA;Cells were cultured in DMEM/F12 supplemented with 20% KOSR;2 mM L-glutamine;0.1 mM Non-essential amino acids;0.1 mM 2-mercaptoethanol and bFGF (concentration stated on Certificate of Analysis) and plated on gelatin coated plates using irradiated CF-1 mouse embryonic fibroblasts as feeder layer.

characteristic: family id

text: twin brother

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND34393 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Mucolipidosis iiia

text: 47 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;healthy childhood and adolescence;presented at age 47 with non-familial subacute tetraspastic syndrome in combination with hyposensibility and paresthesias of the distal upper and lower extremities;sensory neuropathy was diagnosed by orthodromic neurography;several months after the sensory neuropathy was diagnosed a discrete lower extremity motor neuropathy was detectable;spinal cord and cerebral MRI showed an old thromboembolic cerebral infarction in the left frontal lobe that was not apparent clinically;biventricular cardiomyopathy;heart failure worsened in the several years after diagnosis of cardiomyopathy and an endomyocardial biopsy demonstrated hypertrophied cardiomyocytes with birefringent inclusion bodies and electron microscopy revealed prominent lysosomes containing rolled lipid bilayers;at autopsy;neural tissue found to contain inclusions similar to those observed in myocardial tissue but the number of inclusion bodies per cell was smaller;joint mobility and skin normal;unremarkable right hand films;clinical and autopsy findings indicate a mild form of ML III with an atypical clinical presentation;including lack of connective tissue and skeletal abnormalities;lysosomal enzymes elevated in subject's serum include: alpha-iduronidase;beta-glucuronidase;alpha-galactosidase;beta-galactosidase;beta-hexosaminidase A+B;alpha-fucosidase;arylsulfatase A;acid phosphatase;levels of beta-glucuronidase;beta-galactosidase;and alpha-fucosidase in skin fibroblasts were not decreased to the same extent as usually observed in ML III patients;beta-hexosaminidase A+B were decreased in skin fibroblasts;activity of GlcNAc-1-phosphotransferase enzyme in fibroblast extracts was 3.2 +/- 2.7% of control samples;donor subject is homozygous for a G>A transition in the last nucleotide in exon 7 of the GNPTAB gene resulting in aberrant splicing and skipping of exon 7 G>A;Ex7 .

text: SWISS-EMMENTAL

characteristic: ethnicity

text: GNPTAB

characteristic: mutation

text: G>A

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GNPTAB

characteristic: tag

text: N-acetylglucosamine-1-phosphotransferase alpha/beta subunits

text: Mucolipidosis iiia

text: GM20136 female affected Mucolipidosis iiia sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: 58 YR

text: Stem cell

text: NINDS Repository

text: <FONT color='red'> same subject as ND34393 (iPSC sub-clone) </FONT> and ND32320 (whole-blood derived DNA);Cells were cultured in DMEM/F12 supplemented with 20% KOSR;2 mM L-glutamine;0.1 mM Non-essential amino acids;0.1 mM 2-mercaptoethanol and bFGF (concentration stated on Certificate of Analysis) and plated on gelatin coated plates using irradiated CF-1 mouse embryonic fibroblasts as feeder layer.

characteristic: description

text: twin brother

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: ND34394 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Glucosidase acid alpha

text: 2 MO

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;cardiomegaly;macroglossia;hepatomegaly;hypotonia;died before one year of age;alpha glucosidase activity = 2.9 ug/mg prot/hr (normal = 137.1 to 1025.9);donor subject is homozygous for a C>G transversion at nucleotide 1941 in exon 14 of the GAA gene 1941C>G resulting in a substitution of tryptophan for cysteine at codon 647 Cys647Trp(C647W) .

text: PORTUGUESE

text: GAA

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM20161 male affected Glucosidase acid alpha sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND35279 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal mother of three affected children;affected daughter is GM20171;donor subject is heterozygous for a 3 bp deletion at nucleotide 1986 in intron 4 of the HGF gene (1986delTGA) predicted to encode 24 additional amino acids before encountering a stop codon

text: PAKISTANI

characteristic: ethnicity

text: mother

text: HGF

characteristic: gene

text: 3-BP DEL

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: East Indian

text: Female

characteristic: tag

text: Hepatocyte growth factor

text: HGF

text: Deafness autosomal recessive 39

text: GM20170 female unaffected HGF sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

text: child

text: Homo sapiens

text: Caucasian

text: Male

text: ND35280 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: HGF

text: 17 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hearing loss confirmed by audiometry;product of consanguineous marriage;two affected siblings;mother is GM20170;donor subject is homozygous for a 3 bp deletion at nucleotide 1986 in intron 4 of the HGF gene (1986delTGA) predicted to encode 24 additional amino acids before encountering a stop codon

characteristic: description

text: PAKISTANI

text: proband

text: HGF

text: 3-BP DEL

text: Homo sapiens

text: East Indian

characteristic: race

text: Female

text: Hepatocyte growth factor

text: HGF

text: Deafness autosomal recessive 39

text: GM20171 female affected HGF sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: child

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND35281 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hearing loss confirmed by audiometry;product of consanguineous marriage;one affected sister;father is GM20173;donor subject is homozygous for a donor site mutation: a deletion of TGAG at positons 2-5 in the cryptic splice-donor site of IVS4 (IVS4+2delTGAG) of the MARVELD2 (TRIC) gene the mRNA uses the site that introduces 23 bp of intron 4 which results in a premature stop codon (p.K445fsX461)

text: PAKISTANI

characteristic: ethnicity

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: East Indian

text: Female

characteristic: tag

text: Marvel domain-containing protein 2

text: Deafness autosomal recessive 49

text: GM20172 female affected Marveld2 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: sibling

text: Homo sapiens

text: Other

text: Female

text: ND35282 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 60 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal of two affected daughters;affected daughter is GM20172;donor subject is heterozygous for a donor site mutation: a deletion of TGAG at positons 2-5 in the cryptic splice-donor site of IVS4 (IVS4+2delTGAG) of the MARVELD2 (TRIC) gene the mRNA uses the site that introduces 23 bp of intron 4 which results in a premature stop codon (p.K445fsX461)

characteristic: description

text: PAKISTANI

text: father

text: Homo sapiens

text: East Indian

characteristic: race

text: Male

text: Marvel domain-containing protein 2

text: Deafness autosomal recessive 49

text: GM20173 male unaffected Marveld2 sample


text: Coriell

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND35283 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of four affected children;affected is GM20175;donor subject is heterozygous for a 3 bp deletion at nucleotide 1986 in intron 4 of the HGF gene (1986delTGA) predicted to encode 24 additional amino acids before encountering a stop codon

text: PAKISTANI

characteristic: ethnicity

text: father

text: HGF

characteristic: gene

text: 3-BP DEL

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: East Indian

text: Male

characteristic: tag

text: Hepatocyte growth factor

text: HGF

text: Deafness autosomal recessive 39

text: GM20174 male unaffected HGF sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 81 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND35284 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: HGF

text: 20 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hearing loss confirmed by audiometry;product of consanguineous marriage;three affected sisters;father is GM20174;donor subject is homozygous for a 3 bp deletion at nucleotide 1986 in intron 4 of the HGF gene (1986delTGA) predicted to encode 24 additional amino acids before encountering a stop codon

characteristic: description

text: PAKISTANI

text: proband

text: HGF

text: 3-BP DEL

text: Homo sapiens

text: East Indian

characteristic: race

text: Male

text: Hepatocyte growth factor

text: HGF

text: Deafness autosomal recessive 39

text: GM20175 male affected HGF sample


text: Coriell

text: live

text: Generic

text: 86 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND35285 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: TRIOBP

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hearing loss confirmed by audiometry;product of consanguineous marriage;father of one affected son;two affected siblings;mother is GM20183;donor subject is homozygous for a nonsense mutation: a C>T transion at nucleotide 3202 (3202C>T) in exon 6 of the long isoform of the TRIOBP gene;resulting in an Arg1068 to stop Arg1068Ter (R1068X)

text: PAKISTANI

characteristic: ethnicity

text: proband

text: TRIOBP

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: East Indian

text: Male

characteristic: tag

text: Deafness autosomal recessive 28

text: TRIOBP

text: Trio- and f-actin-binding protein

text: GM20182 male affected TRIOBP sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND35286 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 42 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of three affected sons;affected son is GM20185;donor subject is heterozygous for a nonsense mutation: a C>T transion at nucleotide 2362 (2362C>T) in exon 6 of the long isoform of the TRIOBP gene;resulting in an Arg788 to stop Arg788Ter (R788X)

characteristic: description

text: PAKISTANI

text: father

text: TRIOBP

text: Homo sapiens

text: East Indian

characteristic: race

text: Male

text: Deafness autosomal recessive 28

text: TRIOBP

text: Trio- and f-actin-binding protein

text: GM20184 male unaffected TRIOBP sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 79 YR

text: Stem cell

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: same subject as ND31924 (whole-blood derived DNA)

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND35367 male affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: TRIOBP

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hearing loss confirmed by audiometry;product of consanguineous marriage;two affected brothers;father is GM20184;donor subject is homozygous for a nonsense mutation: a C>T transion at nucleotide 2362 (2362C>T) in exon 6 of the long isoform of the TRIOBP gene;resulting in an Arg788 to stop Arg788Ter (R788X)

text: PAKISTANI

characteristic: ethnicity

text: proband

text: TRIOBP

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: East Indian

text: Male

characteristic: tag

text: Deafness autosomal recessive 28

text: TRIOBP

text: Trio- and f-actin-binding protein

text: GM20185 male affected TRIOBP sample