text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 44 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: niece

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND01892 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


status: PUBLIC

characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: HBD

tag: attribute

text: 35 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;hemoglobin Lepore-Baltimore/beta thalassemia;diagnosed at age 4 years;during childhood hemoglobin maintained at 8-9 without transfusions;hemoglobin levels increased to 10-13 as teenager;no pain crises until adulthood when an upper paraspinal mass was detected;hypertension;iron overload;mild pulmonary hypertension;extramedullary hematopoietic mass;extramedullary hematopoiesis of vertebrae with resulting debilitating orthopedic problems;palpable spleen;hemoglobin electrophoresis results: HbA = 0%;HbA2 = 0%;HbF = 76.8%;HbS = 0%;2 smaller bands comigrating near A2 (11.4% and 10.8%);hemoglobin = 13.2 g/dl;MCV = 67.6;affected brother is GM20481;unaffected parents are GM20482 and GM20483;children are GM20575 and GM20576.

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Black

characteristic: race

text: Male

characteristic: sex

text: Hemoglobin--delta locus

characteristic: tag

text: Hemoglobin--beta locus

text: HBB

text: HBD

text: GM20480 male affected HBD sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND01914 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: HBD

text: 32 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hemoglobin Lepore-Baltimore/beta thalassemia;diagnosed at age 5 years;hemoglobin in single digits at birth;hemoglobin levels of 10-12 in teenage years;asymptomatic until late teens;mild knee pain;splenomegaly;no history of transfusions or infection;extramedullary hematopoietic paraspinal mass;kidney stones;hemoglobin electrophoresis results: HbA = 0%;HbA2 = 0%;HbF = 73.9%;HbS = 0%;2 smaller bands comigrating near A2 (11.4% and 13.3%);hemoglobin = 9.9 g/dl;MCV = 63.9;affected brother is GM20480;unaffected parents are GM20482;GM20483.

text: brother

text: Homo sapiens

characteristic: organism

text: Black

text: Male

text: Hemoglobin--delta locus

text: Hemoglobin--beta locus

text: HBB

text: HBD

text: GM20481 male affected HBD sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: ND01919 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: 62 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;beta-thalassemia trait;hypertension;fibromyalgia;high cholesterol;arthritis;hemoglobin electrophoresis results: HbA = 89%;HbA2 = 5.9%;HbF = 4.2%;HbS = 0%;hemoglobin = 13.1 g/dl;MCV = 67.2;affected children are GM20480 and GM20481.

text: mother

text: Homo sapiens

text: Black

text: Female

text: Hemoglobin--beta locus

text: HBB

text: GM20482 female unaffected Hemoglobin--beta locus sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND01920 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 68 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;hemoglobin Lepore-Baltimore;hypertension;high cholesterol;glaucoma;prostate cancer;hemoglobin electrophoresis results: HbA = 79.2%;HbA2 = 3%;HbF = 2.5%;HbS = 0%;Hb Lepore-Baltimore = 15.3%;hemoglobin = 12 g/dl;MCV = 68.6;affected children are GM20480 and GM20481.

text: father

text: Homo sapiens

text: Black

text: Male

text: Hemoglobin--delta locus

text: HBD

text: GM20483 male unaffected Hemoglobin--delta locus sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: African American

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND01921 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Hemoglobin--beta locus

text: 54 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;beta-thalassemia intermedia;diagnosed at birth;1-2 blood transfusions in childhood;transfusions increased over lifetime with over 100 performed by age 54 years;splenectomy at age 29 years followed by cholecystectomy 3 months later;pulmonary hypertension;hypothyroidism;endocrinopathies;abnormal GTT levels;eczema on elbows and knees;abdominal pain;hepatomegaly;hemoglobin electrophoresis results: HbA = 84.7%;HbA2 = 4.9%;HbF = 10.4%;HbS = 0%;hemoglobin = 7.8 g/dl;MCV = 59.7.

characteristic: description

text: SICILIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Hemoglobin--beta locus

characteristic: tag

text: HBB

text: GM20498 male affected Hemoglobin--beta locus sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 54 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: African American

text: Female

text: ND01922 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Isodicentric chromosome

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mild cognitive impairment;epicanthal folds;duplication of maternal origin.

text: 93;XXXX;-6;+idic(15)(pter>q13::q13>pter)x2 156;/47;XX;+idic(15)(pter>q13::q13>pter) 90 .ish idic(15)(q13)(D15Z1++;D15S11++;GABRB3++)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Isodicentric chromosome

text: GM20546 female affected Isodicentric chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 22 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND01925;unaffected sister is ND01926

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND01924 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Isodicentric chromosome

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;speech and developmental delay;duplication of maternal origin.

characteristic: description

text: 47;XY;+idic(15)(pter>q13::q13>pter).ish idic(15)(D15Z1++;D15S11++;GABRB3++)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Isodicentric chromosome

text: GM20547 male affected Isodicentric chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND01924;unaffected daughter is ND01926

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND01925 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Isodicentric chromosome

text: 1 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;developmental delay;genitourinary malformation at birth;uterus is present;47;XY female;Y chromosome is SRY positive;duplication of maternal origin.

text: Homo sapiens

text: Caucasian

text: Isodicentric chromosome

text: GM20548 unknown affected Isodicentric chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected sister of ND01924;unaffected daughter of ND01925

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND01926 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: Autistic disorder

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;moderate to severe cognitive impairment;meets criteria for autism on ADI-R and ADOS-G;seizure disorder;father is GM20555;mother is GM20551.

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Autistic disorder

text: Copy number variation (cnv) reference panel

text: Isodicentric chromosome

text: GM20556 male affected Autistic disorder sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 71 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND01929

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01928 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Autistic disorder

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;moderate cognitive impairment;seizures;autism;duplication of maternal origin.

text: 47;XX;+idic(15)(pter>q13::q13>pter).ish idic(15)(D15Z1++;D15S11++;GABRB3++)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Autistic disorder

text: Isodicentric chromosome

text: GM20562 female affected Autistic disorder sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01928

characteristic: family id

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND01929 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 5 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;overgrowth;advanced bone age (3SD older than chronological age;obesity;macrocephaly;partial fusion of spine at C2-C3;hypertelorism;carp-shaped mouth;behavioral problems including temper tantrums;hitting of head and chest when frustrated;aggression;problems with toilet training;encopresis (defecating in particular);history of febrile seizures (X2);but no epilepsy;history of respiratory problems including pneumonia and acute asthma;especially in the cold weather

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Inverted chromosome

text: GM20567 male unaffected Inverted chromosome sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter is ND01932

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND01931 female affected Parkinson disease sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 7 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;mental retardation;unusual fat distribution around trunk: gastroesophageal reflux;fed by G-tube;no increase in calories has occurred;seizure disorder;movement disorder: random writhing type movements;wheelchair-dependent;Pierre-Robin sequence: mild micrognathia and cleft of the soft palate;microcephalic;otherwise non-dysmorphic;low growth hormone level and high cortisone level;pseudogynecomastia;testing for Smith-Lemli-Opitz syndrome was negative

characteristic: description

text: 46;XY;t(1;6)(1pter>1q23::6q13>6qter;6pter>6q13::1q23>1qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Translocated chromosome

text: GM20568 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND01931

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND01932 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 2 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Ocular colobomas;Wilm's tumor diagnosed at 8 months of age;developmental delay;seizures at approximately 2 years of age;mild dysmorphism including: mild frontal bossing;right ptosis;somewhat narrow nostrils and flat columella;thin and down-turned upper lip;MRI showed a thin corpus callosum

text: 46;XX;der(14)(14pter>14q32.2::12q24.31>12qter)mat 32 /;47;XX;+14;der(14)(14pter>14q32.2::12q24.31>12qter)mat 18 .ish der(14)(D12S2343+);47;XX;+der(14)(14pter->14q32.2::12q24.31->12qter)mat 8 /46;XX;der(14)(14pter->14q32.2::12q24.31->12qter)mat 2

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Derivative chromosome

text: GM20570 female unaffected Copy number variation (cnv) refernece panel 02 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01936

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND01935 female affected Parkinson disease sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 7 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Developmental delay;obesity;erythematous pustular lesions on skin exam;behavioral issues;dysmorphic features;fragile X testing was negative;Prader-Willi methylation studies were also negative

characteristic: description

text: 46;XX;t(9;19)(9pter>9q22.3::19q13.1>19qter;19pter>19q13.1::9q22.3>9qter)

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: GM20571 female unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01935

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND01936 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 7 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Mild developmental delay (sat at 1 year;walked at 2 years;delayed speech with two to three word phrases;rarely sentences);mild synophyrys;flat philtrum and thin upper lip;behavior problems (including temper tantrums;self-biting;sleep disturbance and agitation)

text: 46;X;t(X;17)(Xqter>Xp11.23::17p11.2>17pter;17qter>17p11.2::Xp11.23>Xpter);46;X;t(Xqter>Xp11.23::17p11.2>17pter;17qter>17p11.2::Xp11.23>Xpter);

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: GM20572 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01938

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01937 female affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Hemoglobin--delta locus

text: 15 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected with Kawasaki disease;Kawasaki disease diagnosed at age 3 years;hemoglobin Lepore-Baltimore;hemoglobin electrophoresis results: HbA = 77.4%;HbA2 = 1.5%;HbF = 10.6%;HbS = 0%;Hb Lepore = 10.5%;hemoglobin = 12 g/dl;MCV = 71.6;father is GM20480;paternal half-sibling is GM20576.

characteristic: description

text: daughter

text: Homo sapiens

text: Black

text: Female

text: Hemoglobin--delta locus

text: Kawasaki disease

text: HBD

text: GM20575 female affected Hemoglobin--delta locus sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01937

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: Neurologically normal caucasian control panel

text: ND01938 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 11 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically healthy;beta-thalassemia trait;asthma;hemoglobin electrophoresis results: HbA = 90.9%;HbA2 = 6.5%;HbF = 2.6%;HbS = 0%;hemoglobin = 11 g/dl;MCV = 68.3;father is GM20480;paternal half-sibling is GM20575.

text: son

text: Homo sapiens

text: Black

text: Male

text: Hemoglobin--beta locus

text: HBB

text: GM20576 male unaffected Hemoglobin--beta locus sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND01940

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: PD

text: Parkinson disease

text: ND01939 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Hemoglobin--beta locus

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hemoglobin E/beta-thalassemia major;started requiring transfusions about age 9 years;more than 150 transfusions over lifetime;iron overload controlled with chelation therapy;splenectomy;hemoglobin electrophoresis results: HbA = 84.7%;HbA2 = 13.5%;HbF = 1.8%;HbS = 0%;13.5% Hb E/comigrates with HbA2;hemoglobin = 10.6 g/dl;MCV = 84.2.

text: Homo sapiens

text: East Indian

text: Male

text: Hemoglobin--beta locus

text: HBB

text: GM20577 male affected Hemoglobin--beta locus sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 62 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01939

characteristic: description

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND01940 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically healthy;sickle cell trait;hemoglobin electrophoresis results: HbA = 60.4%;HbA2 = 0%;HbF = 4.4%;HbS = 35.1%;hemoglobin = 11.1 g/dl;MCV = 83.2.

text: Homo sapiens

text: Black

characteristic: race

text: Female

characteristic: sex

text: Sickle cell anemia

characteristic: tag

text: GM20729 female unaffected Sickle cell anemia sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 68 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01942

characteristic: family id

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND01941 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: SMS

text: 20 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;born at 42 weeks gestation via cesarean section;birth weight = 4.3 kg;hypotonia;upslanting palpebral fissures and midface hypoplasia noted in neonatal period;significant delays with motor skills and language development;at age 18 months;long tantrums;attention seeking;and repetitive behaviors began;enuresis until age 12 years;frequent ear infections in childhood led to removal of tonsils and adenoids;short fingers and hands;clino-brachydactyly of fifth fingers bilaterally;at age 15 years;developmental age was 8-10 years;IQ = 67 on Wechsler scale at age 15 years;waddling gait;loud and hoarse voice;decreased sensitivity to pain;low-set ears;prognathism;brachycephaly;tented upper lip;broad;square face;no synophrys;myopia but no strabismus or iris abnormalities;no structural cardiovascular or renal anomalies;significant sleep disturbance including frequent napping and multiple night awakenings;self hugging/hand wringing;skin picking;onychotillomania;polyembolokoilamania;no hand biting or head banging;overeating and problems with weight management;at age 19 years weight >97th percentile and height about 75th percentile;at age 19 years;bipolar episodes exhibited;normal karyotype;negative Fragile X studies;normal FISH for del(22)(q11.2);normal FISH for del(17)(p11.2);donor subject has a de novo deletion of 19 base pairs starting at nucleotide 253 in exon 3 of the RAI1 gene 253del19 that causes a frameshift mutation leading to misincorporation of 60 amino acids followed by a stop codon.

text: 46;XX.ish 17p13.3(LISIX2);17p11.2(FLIX2)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Smith-magenis syndrome

text: Retinoic acid-induced gene 1

text: SMS

text: GM20734 female affected SMS sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 69 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01941

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND01942 male unaffected Neurologically normal caucasian control panel sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: SMS

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;born at 42 weeks gestation;birth weight = 4.1 kg;behavior problems noted at age 9 months with explosive tantrums;frequent irritability with sleep disturbance in infancy;microcephaly diagnosed as an infant (head circumference < 5th percentile) but head growth gradually improved to normal range;height and weight remained at 25th percentile throughout early childhood with gradual increases over time;sat at age 6 months;walked at age 12 months;speech was delayed and regressed at age 4 years with onset of seizures;seizures were complex and involved grand mal;Jacksonian;and petit mal episodes;language;psychosocial;motor;and cognitive skills below the 7th percentile;IQ = 57 on Wechsler scale;self-hugging;attention seeking;head banging;twirling of objects;onychotillomania;polyembolokoilamania of rectum;umbilicus;ears;and mouth;no abnormal sleep patterns at age 11 years (but sedated as a component of seizure therapy);at age 11 years;height and weight about 75th percentile and head circumference at 50th percentile;flat occiput and round face (like mother's);no midface hypoplasia;full lips with tenting of upper lip;multiple small;nonpigmented papillae on tongue;two 2x3 cm cafe-au-lait spots on trunk;eczema behind ears;brachycephaly;no synophrys;brachydactyly;hoarse;deep voice;no recurrent ear infections;hypotonia;no myopia;strabismus;or iris abnormalities;no structural cardiovascular or renal anomalies;EEG showed 2.5-5 Hz delta activity with medium to high amplitude spikes;sharps and polyspikes seen over the right central parietal;right occipital and bifrontal regions;MRI showed slight asymmetry in the gyral sulcation pattern along the left posterior frontal lobe in the precentral gyrus;normal karyotype;no evidence of 17p11.2 deletion;donor subject has a de novo A>G transition at nucleotide 4685 in exon 3 of the RAI1 gene 4685A>G resulting in a substitution of arginine for glutamine at codon 1562 Gln1562Arg (Q1562R) .

characteristic: description

text: RAI

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Smith-magenis syndrome

text: Retinoic acid-induced gene 1

text: SMS

text: GM20735 female affected SMS sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01944

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: PD

characteristic: tag

text: Parkinson disease

text: Young onset parkinsons disease: affected individuals

text: ND01943 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 55 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically healthy;sickle cell trait;hemoglobin electrophoresis results: HbA = 58%;HbA2 = 3.9%;HbF = 0%;HbS = 38.1%;hemoglobin = 12 g/dl;MCV = 83.3.

text: Homo sapiens

text: Black

text: Female

text: Sickle cell anemia

text: GM20736 female unaffected Sickle cell anemia sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01943

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND01944 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 39 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND01949 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND01950 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: SMS

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;brachycephaly;prognathism;tented upper lip;broad square face;hoarse deep voice;mental retardation;speech delay;sleep disturbance;self hugging;onychotillomania;polyembolokoilomania;head banging/face slapping;hand biting;attention seeking;myopia;strabismus;synophrys;scoliosis;no deletion detected in cell line by FISH analysis;donor subject has a 29 bp deletion at nucleotide 2773 of the RAI1 gene (2773del29)

characteristic: description

characteristic: gene

text: 46;XY.ish 17p11.2(LIS1x2);17p13.3(FLIx2)

characteristic: karyotype

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Smith-magenis syndrome

text: Retinoic acid-induced gene 1

text: SMS

text: GM20742 male affected SMS sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

characteristic: tag

text: ND01970 male affected Subarachnoid hemorrhage sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Chromosome deletion

text: 25 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;brachycephaly;midface hypoplasia;prognathism;tented upper lip;broad square midface;short broad hands;short stature;middle ear/laryngeal anomalies;hoarse deep voice;mental retardation;speech and motor delay;infantile hypotonia;sleep disturbance;self-injurious behavior;hearing loss;ocular abnormalities;scoliosis;cardiovascular anomalies;renal anomalies

text: 46;XY;del(17)(pter>p11.2::p11.2>qter).ish del(17)(LIS1+;FL1-)

text: Homo sapiens

text: Caucasian

text: Male

text: Smith-magenis syndrome

text: SMS

text: Chromosome deletion

text: GM20743 male affected Chromosome deletion sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 76 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND01971 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically healthy;hemoglobin C/alpha-thalassemia trait;hemoglobin electrophoresis results: HbA = 61%;HbA2 = 3.7%;HbF = 0%;HbS = 0%;HbC = 35.7%;hemoglobin = 15.6 g/dl;MCV = 76.8.

characteristic: description

text: Homo sapiens

text: Black

characteristic: race

text: Male

text: Hemoglobin--alpha locus 1

text: Hemoglobin--beta locus

text: HBB

text: GM20744 male unaffected HBB sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND01972 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically healthy;sickle cell anemia;hereditary persistence of fetal hemoglobin;probably HPFH-1 with 79.63% F cells and 40.94% F reticulocytes;no history of pain crises;fatigue through childhood and adulthood;hematuria;pneumonia on two occasions;constipation;spleen 3 cm below left costal margin;both parents are carriers of the sickle gene;hemoglobin electrophoresis results: HbA = 0%;HbA2 = 2.8%;HbF = 22.7%;HbS = 74.5%;hemoglobin = 9.3 g/dl;MCV = 111.

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Sickle cell anemia

characteristic: tag

text: GM20747 female affected Hemoglobin f, hereditary persistence of pancellular sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND01973 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 36 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically healthy;sickle cell trait;hemoglobin electrophoresis results: HbA = 59.7%;HbA2 = 4.1%;HbF = 0.4%;HbS = 35.7%;hemoglobin = 14.2 g/dl;MCV = 83.5.

text: Homo sapiens

text: Black

text: Female

text: Sickle cell anemia

text: GM20748 female unaffected Sickle cell anemia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Epilepsy

text: 1 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND01974 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically healthy;sickle cell trait;2-3 episodes of epistaxis per week from age 8 to 11 years;type II diabetes diagnosed in adulthood;hemoglobin electrophoresis results: HbA = 61.4%;HbA2 = 3.8%;HbF = 0%;HbS = 34.8%;hemoglobin = 11.1 g/dl;MCV = 77.2.

text: Homo sapiens

text: Black

text: Female

text: Sickle cell anemia

text: GM20838 female unaffected Sickle cell anemia sample


text: Coriell

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND01975 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Hemoglobin--beta locus

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;beta-thalassemia major;diagnosed during infancy;transfusion dependent since childhood with the exception of ages 9-15 years when transfusions were not needed;splenectomy at age 9 years;pulmonary hypertension diagnosed at age 40 years;left femur fracture at age 42 years;osteoporosis;gout;gastric ulcer;bronze skin complexion;blue sclera;short stature;endocrinopathies;hemoglobin electrophoresis results: HbA = 81.7%;HbA2 = 2.9%;HbF = 15.4%;HbS = 0%;hemoglobin = 10.1 g/dl;MCV = 86.1.

characteristic: description

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Hemoglobin--beta locus

text: HBB

text: GM20839 female affected Hemoglobin--beta locus sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 25 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: ND01976 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Craniosynostosis

text: 9 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Coronal craniosynostosis;short stature;digital contractions;midfacial hypoplasia;product of consanguineous marriage

text: Homo sapiens

text: East Indian

text: Female

characteristic: sex

text: Syndromic

characteristic: tag

text: Craniosynostosis

text: GM20841 female affected Craniosynostosis sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 53 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: maternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: ND01977 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 23 FW

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Elevated alphafetoprotein (55.18ug/ml);omphalocele;lumbar spina bifida;intrauterine growth retardation;bilateral ventriculomegaly;micrognathia;overlapping fingers and prominent heels

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: GM20912 male affected Aneuploid chromosome number - trisomy 18 sample


text: Coriell

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND01978 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically healthy;sickle cell trait;hemoglobin electrophoresis results: HbA = 56.3%;HbA2 = 3.8%;HbF = 0%;HbS = 39.9%;hemoglobin = 13 g/dl;MCV = 91.6;sister is GM20914.

characteristic: description

text: proband

text: Homo sapiens

text: Black

text: Female

text: Sickle cell anemia

text: GM20913 female unaffected Sickle cell anemia sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01980

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01979 female affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 44 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically healthy;sickle cell trait;history of iron deficiency anemia treated with iron;hemoglobin electrophoresis results: HbA = 56.5%;HbA2 = 3.9%;HbF = 0.3%;HbS = 39.3%;hemoglobin = 12.2 g/dl;MCV = 83.1;sister is GM20913.

text: sister

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Sickle cell anemia

characteristic: tag

text: GM20914 female unaffected Sickle cell anemia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 76 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01979

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND01980 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;meets criteria for autism on ADOS-G on both social and communication scales;does not meet criteria for autism on ADI-R;methylation analysis at SNRPN locus shows duplication is of maternal origin.

text: 46;XX.idic(15)(q13);add(19)(p13) 9 /46;XX.idic(15)(q13);add(19)(p13);r(8) 6 / 46;XX.idic(15)(q13);r(8) 2 /46;XX.idic(15)(q13) 9 /46;XX;idic(15)(pter>q13::q13>pter) 11 .ish idic(15)(D15Z1++;D15S11++;GABRB3++);add(19)(Cdy 16c07+);47;XX;+idic(15)(pter->q13::q13->pter);der(19)t(X;19)(Xqter->Xq21::19p13->19qter) 6 /46;XX;idic(15))(pter->q13::q13->pter) 3 /46;XX;idic(15))(pter->q13::q13->pter);r(8)(::p23->q24.3::) 1 .ish 8pter(D8S2333x2);8qter(VIJyRM2053x2).arr Xq21.33q28(95392004-153561333)x2 3;4q35.1q35.2(182999117-191210542)x2 3;8p23.1(7254762-7836249)x3;15q11.1q13.3(18276328-30436012)x4

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Isodicentric chromosome

text: GM20916 female unaffected Isodicentric chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND02658

characteristic: description

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND01981 female affected Parkinson disease sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically healthy;hemoglobin Lepore-Boston;known delta-beta hybrid (delta through 87;beta from 116);hemoglobin electrophoresis results: HbA = 84.3%;HbA2 = 2%;HbF = 2.1%;HbS = 0%;Hb Lepore-Boston = 11.6%;hemoglobin = 12.8 g/dl;MCV = 70.8.

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Hemoglobin--delta locus

text: HBD

text: GM20917 male unaffected Hemoglobin--delta locus sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: PD

text: 69 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01983

text: proband

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Late onset parkinsons dna panel: affected individuals

characteristic: tag

text: PD

text: Parkinson disease

text: ND01982 female affected PD sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 23 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically healthy;beta-thalassemia trait;hemoglobin electrophoresis results: HbA = 93%;HbA2 = 5.7%;HbF = 1.3%;HbS = 0%;hemoglobin = 12.4 g/dl;MCV = 62.4.

text: ITALIAN/GREEK

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Hemoglobin--beta locus

text: HBB

text: GM20919 male unaffected Hemoglobin--beta locus sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01982

characteristic: description

characteristic: family id

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND01983 male unaffected Neurologically normal caucasian control panel sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Sickle cell anemia

text: 29 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;sickle cell anemia;diagnosed at age 6 months but clinical problems did not develop until 18 months of age;pain crises about two times per year with an increase to every 2-3 months during late teens;middle ear infection requiring IV antibiotics at age 4 years;infection of unknown etiology at age 12 years;history of community acquired pneumonia/acute chest syndrome on 3 occasions;history of one blood transfusion;pain crises decreased to about 4 per year when hydroxyurea started;kidney stones;diagnosed with cutaneous lupus via lymph node biopsy at age 28 years;hemoglobin electrophoresis results: HbA = 4.3%;HbA2 = 0%;HbF = 19.5%;HbS = 76.2%;hemoglobin = 10.2 g/dl;MCV = 100.

text: NIGERIAN/AFRICAN-AMERICAN

text: Homo sapiens

text: Black

characteristic: race

text: Male

characteristic: sex

text: Sickle cell anemia

text: GM20920 male affected Sickle cell anemia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Parkinson disease

text: 51 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected daughter is ND01888

text: proband

text: Homo sapiens

text: African American

text: Female

text: PD

text: Parkinson disease

text: ND01985 female affected Parkinson disease sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Donor subject is heterozygous for a C>T substitution at nucleotide 355 (355C>T) which converts the Arg-75 codon to a stop;resulting in a nonsense mutation in exon 3 of the CFTR gene Arg75Ter (R75X)

text: CFTR

characteristic: mutation

text: Homo sapiens

text: Black

text: Female

text: CF

characteristic: tag

text: Cystic fibrosis

text: Cystic fibrosis transmembrane conductance regulator

text: CFTR

text: GM20924 female unaffected CF sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND01986 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: VCP

text: 35 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;right arm weakness;inability to raise arms above shoulder level;pain in lower neck;shoulder blades and right lower back;marked scapular winging;weakness of limb-girdle muscles;good distal muscle strength;significant atrophy of posterior paraspinal muscles;hypertrophy of quadratus lumborum muscle;tendon reflexes present bilaterally;normal MRI and nerve conduction studies;EMG of right deltoid normal but EMG of gluteal muscles was myopathic;alkaline phosphatase normal at 59 U/L (normal range 30-120);CPK elevated at 473 U/L (normal range 0-200);donor subject has one allele with a T>G transversion at nucleotide 593 in exon 6 of the VCP gene 593T>G resulting in a substitution of tryptophan for leucine at codon 198 Leu198Trp (L198W)

characteristic: description

text: LITHUANIAN

characteristic: ethnicity

text: VCP

characteristic: gene

text: Homo sapiens

text: Caucasian

text: Female

text: Inclusion body myopathy with early-onset paget disease and frontotemporal dementia

text: IBMPFD

text: VCP

text: Valosin-containing protein

text: GM20926 female affected VCP sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 34 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: 1st Degree Relative

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND01989 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 39 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically healthy;hereditary persistence of fetal hemoglobin;childhood asthma;hypothyroidism;premature ovarian failure;hemoglobin electrophoresis results: HbA = 68.5%;HbA2 = 2.1%;HbF = 29.4%;HbS = 0%;hemoglobin = 13.3 g/dl;MCV = 79.8;mother of GM20936 and GM20937.

text: AFRICAN-AMERICAN

text: proband

text: Homo sapiens

text: Black

text: Female

text: Hereditary persistence of pancellular

text: Hemoglobin f

text: GM20935 female unaffected Hemoglobin f sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: half-sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

characteristic: tag

text: Intracranial aneurysm - unruptured

text: ND01990 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically healthy;hereditary persistence of fetal hemoglobin;hemoglobin electrophoresis results: HbA = 66.6%;HbA2 = 2.3%;HbF = 31.1%;HbS = 0%;hemoglobin = 15.2 g/dl;MCV = 81.2;son of GM20935;brother of GM20937.

characteristic: description

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: son

text: Homo sapiens

text: Black

text: Male

text: Hereditary persistence of pancellular

text: Hemoglobin f

text: GM20936 male unaffected Hemoglobin f sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 71 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND01991 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 17 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically healthy;childhood asthma;hemoglobin electrophoresis results: HbA = 97.4%;HbA2 = 2.6%;HbF = 0%;HbS = 0%;hemoglobin = 16 g/dl;MCV = 87.6;son of GM20935;brother of GM20936.

text: AFRICAN-AMERICAN

text: son

text: Homo sapiens

text: Black

characteristic: race

text: Male

characteristic: sex

text: Hemoglobin f, hereditary persistence of pancellular

text: Apparently healthy non-fetal tissue

text: GM20937 male unaffected Apparently healthy non-fetal tissue sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 69 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND01992 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;product of a twin pregnancy;holocarboxylase synthetase deficient;acidosis;cat urine odor;shock;responded well to biotin treatment;mother was given supplemental biotin in the last trimester of pregnancy due to history of two previously affected infants;deficient propionyl CoA carboxylase;pyruvate carboxylase;and B-methylcrotonyl CoA carboxylase;see GM03522 Fibroblast

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Holocarboxylase synthetase deficiency

text: GM21068 male unaffected Holocarboxylase synthetase deficiency sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: ND01994 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Participant #2 (huC30901) in the Personal Genome Project: http://www.personalgenomes.org

characteristic: description

text: CZECH/POLISH/LATVIAN

characteristic: ethnicity

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Apparently healthy non-fetal tissue

text: Personal genome project

text: GM21070 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 43 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND01996 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: XPB

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;mild XP without Cockayne Syndrome;sun sensitivity;freckle-like pigmentation on sun exposed sites which developed in childhood;multiple basal cell carcinomas the first of which was diagnosed at age 28 years;ocular malignant melanoma at age 22 years (choroidal melanoma arising near the ciliary body and invading the iris of left eye requiring enucleation);retina was otherwise normal without pigmentary retinal degeneration;conjunctival pterygium;a vascularized mass requiring corneal grafting;progressive bilateral sensorineural deafness detected in childhood requiring hearing aids from age 17 years;normal intelligence;but difficult to access because of the hearing loss;normal stature;normal sexual development;affected sister;mother of three normal children;see GM21148 Lymphoid;donor subject is a compound heterozygote: the maternal allele has a substitution of C>T at nucleotide 1273 in exon 8 of the ERCC3 gene (c.1273C>T) resulting in an arginine at position 425 being converted to a stop codon Arg425Ter (R425X) and the paternal allele has a T>C change at nucleotide 296 in exon 3 (c.296T>C) resulting in phenylalanine at position 99 being converted to a serine Phe99Ser (F99S)

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Xeroderma pigmentosum, complementation group b

text: XPB

text: Excision-repair: complementing defective in chinese hamster 3

text: GM21071 female affected XPB sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: ND01997 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: XPB

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;severe form of the XP/CS complex;developed severe sunburn at 2 weeks of age;diagnosed at age 4 years because of freckling on sun exposed areas of face;shoulders and extremities;no skin cancers;CS features of bird-like face;increasing growth retardation;progressive hearing loss since age 7 years;and progressive loss of mental development;could walk at 20 months of age;but now has central coordination disability;walking ataxia;intention tremor;and abnormal balance;hyperopia;but no optic nerve atrophy or cataracts;absent patella and achilles tendon reflexes;Babinski sign was negative;donor subject is a compound heterozygote: the maternal allele has a C>A transversion mutation at the -6 position of the splice acceptor sequence of the ERCC3 gene in intron 14 (IVS14-6C>A)and the paternal allele has a C>T change at nucleotide 1633 in exon 10 (c.1633C>T) resulting in a glutamine at position 545 being converted to a termination codon Gln545Ter (Q545X)

characteristic: description

text: GERMAN

characteristic: ethnicity

text: FS

text: SPLICE ACCEPTOR C>A

text: Homo sapiens

text: Caucasian

text: Female

text: XPB

text: GM21072 female affected XPB sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 41 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND01998 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Developmental delay;tracheoesophageal fistual;surgically corrected;smaller left jaw;overbite;braces for malocculusion;right maxillary hypoplasia;anti-mongoloid slant;mild scoliosis;learning disabilities;auditory processing difficulty;fine/gross motor delay;bilateral hearing deficiency (conductive);narrow isthmus at the bony cartilagenous junction in the external canal;perilymph fistula?

text: 46;XY;t(15;17)(15pter>15q24::17q21.3>17qter;17pter>17q21.3::15q24>15qter).ish t(15;17)(PML+;D15S936-;RARAlpha-;D17S2200+;PML-;RARAlpha+;D15S936+;D17S2200-)

characteristic: karyotype

text: Homo sapiens

text: Asian

characteristic: race

text: Male

characteristic: sex

text: Translocated chromosome

text: GM21073 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: paternal first cousin

text: Homo sapiens

text: Caucasian

text: Female

text: ND01999 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Developmental delay particularly in language;plasma amino acids;urine organic acids and lactate pyruvate biotinidase levels were all within normal range;microcephaly;slight bilateral epicanthal folds;nose slightly upturned with thin upper lip;slightly upturned corners of the mouth;very mild micrognathia;seizure disorder;cat scan of head and MRI of brain were both normal

text: 46;XX;inv(2)(pter>p23::q31>p23::q31>qter);47;XXX;inv(2)(pter>p23::q31>p23::q31>qter) 5 /46;XX;inv(2)(pter>p23::q31>p23::q31>qter) 33

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Inverted chromosome

characteristic: tag

text: GM21074 female unaffected Inverted chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND02000 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 9 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Hypospadias/ambiguous genetalia;IVF pregnancy with high dose of exogenous progesterone;at 2 years of age the donor had a sudden onset of leukocoria and bilateral cataracts were noted;the left eye had a large posterior lenticonus and the right eye had a very diaphanous posterior capsule;but no defect;the donor underwent surgery and developed normal vision;and at age 9 years was reported to have had normal growth and development;parental karyotypes are normal

characteristic: description

text: 46;XY;inv(9)(pter>q22.3::q34.1>q22.3::q34.1>qter).ish inv(9)(WCP9+;D9S2168+)

text: Homo sapiens

text: Caucasian

text: Male

text: Inverted chromosome

text: GM21075 male unaffected Inverted chromosome sample


text: Coriell

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: ND02001 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;motor problems;spasticity;PDD-NOS;apparent regression

text: 46;XX;inv(2)(pter>p23::q31.1>p23::q31.1>qter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Inverted chromosome

text: GM21077 female unaffected Inverted chromosome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: paternal first cousin

text: Homo sapiens

text: Caucasian

text: Female

text: ND02002 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: De novo translocation;developmental and growth delay;MRI of brain was normal;hypotonia;oral-motor issues and hypersensitivity;speech and language delay

text: 46;XY;t(2;6)(2pter>2q32.2::6q25.3>6qter;6pter>6q25.3::2q32.2>2qter).ish t(2;6)(WCP2+;D6S2522+;WCP2+;D6S2522-)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Translocated chromosome

characteristic: tag

text: GM21078 male unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Epilepsy

text: 18 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND02005

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND02004 female affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 16 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mild language and motor developmental delay;conduct disorder;Tourette syndrome/OCD tendencies;schizoaffective disorder;PDD;obesity;negative for fragile X;

characteristic: description

text: 46;XY;t(1;2)(1pter>1q31.2::2p15>2pter;2qter>2p15::1q31.2>1qter).ish t(1;2)(WCP1+;WCP2+;WCP1+;WCP2+)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Translocated chromosome

text: GM21079 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND02004

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND02005 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Hemoglobin--beta locus

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;Hemoglobin E/beta thalassemia;hemolytic anemia;splenectomy;edema;hemoglobin electrophoresis results: HbA = 0%;HbA2 = 0%;HbF = 43.6%;HbS = 0%;HbE = 56.4%;hemoglobin = 8.3 g/dl;MCV = 64.5;donor subject has a G>A change in codon 26 of the HBB gene resulting in the substitution of lysine for glutamic acid Glu26Lys (E26K) and possibly a large deletional mutation such as HPFH or Beta Thalassemia;history of transfusions;currently on iron chelation therapy due to iron overload

text: HBB

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Asian

text: Male

text: Hemoglobin--beta locus

text: HBB

text: GM21081 male affected Hemoglobin--beta locus sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 16 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND02007;unaffected father is ND02008

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND02006 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Hemoglobin--beta locus

text: 29 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;Hemoglobin E/beta thalassemia;diagnosed at birth;transfusion dependent since age 3 years;iron overload;splenectomy at age 3 years;history of slow growth development with use of growth hormones for about 1 year;history of delayed sexual development with testosterone replacement for about 1 year;melanoma diagnosed at age 28 years;high frequency hearing loss;history of respiratory infections and pneumonia in childhood;hemoglobin electrophoresis results: HbA = 91.2%;HbA2 = 0%;HbF = 1.3%;HbS = 0%;HbE = 7.5%;hemoglobin = 12.4 g/dl;MCV = 84.4;donor subject has a G>A change in codon 26 of the HBB gene resulting in the substitution of lysine for glutamic acid Glu26Lys (E26K);transfusion-dependent;currently on iron chelation therapy

text: VIETNAMESE/PANAMANIAN/CHINESE

characteristic: ethnicity

text: HBB

text: Homo sapiens

text: Asian;Other

text: Male

text: Hemoglobin--beta locus

text: HBB

text: GM21082 male affected Hemoglobin--beta locus sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected mother of ND02006;spouse of ND02008

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND02007 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: XPB

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;mild XP without Cockayne Syndrome;sun sensitivity;freckle-like pigmentation on sun exposed sites which developed in childhood;multiple basal cell carcinomas the first of which was diagnosed at age 28 years;ocular malignant melanoma at age 22 years (choroidal melanoma arising near the ciliary body and invading the iris of left eye requiring enucleation);retina was otherwise normal without pigmentary retinal degeneration;conjunctival pterygium;a vascularized mass requiring corneal grafting;progressive bilateral sensorineural deafness detected in childhood requiring hearing aids from age 17 years;normal intelligence;but difficult to access because of the hearing loss;normal stature;normal sexual development;affected sister;mother of three normal children;see GM21071 Fibroblast;donor subject is a compound heterozygote: the maternal allele has a substitution of C>T at nucleotide 1273 in exon 8 of the ERCC3 gene (c.1273C>T) resulting in an arginine at position 425 being converted to a stop codon Arg425Ter (R425X) and the paternal allele has a T>C change at nucleotide 296 in exon 3 (c.296T>C) resulting in phenylalanine at position 99 being converted to a serine Phe99Ser (F99S)

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Xeroderma pigmentosum, complementation group b

text: XPB

text: Excision-repair: complementing defective in chinese hamster 3

text: GM21148 female affected XPB sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected father of ND02006;spouse of ND02007

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: tag

text: ND02008 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father of two affected children;affected daughter is GM21071;donor subject has a T>C change at nucleotide 296 in exon 3 (c.296T>C) of the ERCC3 gene resulting in phenylalanine at position 99 being converted to a serine Phe99Ser (F99S)

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: XPB

text: GM21149 male unaffected XPB sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Epilepsy

text: 10 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Affected mother is ND02010;unaffected father is ND02011

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND02009 male affected Epilepsy sample

characteristic: title


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Mother of two affected children;affected daughter is GM21071);donor subject has a substitution of C>T at nucleotide 1273 in exon 8 of the ERCC3 gene (c.1273C>T) resulting in an arginine at position 425 being converted to a stop codon Arg425Ter (R425X)

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: XPB

text: GM21150 female unaffected XPB sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 37 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected mother of ND02009;unaffected spouse is ND002011

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

text: ND02010 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: XPB

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;severe form;sun sensitivity with numerous abnormal pigmented areas;keratoses involving the nose;dysgnathia;telangiectasias;atrophic patches on sun-exposed skin;recurrent squamous cell carcinoma of his eyelid;growth and mental retardation;sensorineural deafness;optic atrophy;pigmentary retinopathy;ataxia;decreased nerve conduction velocity;enlarged cerebral ventricles;cerebellar atrophy;calcification of the basal ganglia;blood had reduced natural killer cell activity;he developed proteinuria and hypertension and died of end-stage renal failure and massive bilateral pneumonia at age 31 years;donor subject is a compound heterozygote: one allele has an insertion of an A at nucleotide 1421 (c.1421_1422insA) in exon 9 of the ERCC3 gene resulting in a substitution of glutamic acid for aspartic acid at codon 474 and the creation of a premature termination signal at codon 475 (p.D474EfsX475);the second allele has a C>A transversion at the -6 (c.2218) position in the splice acceptor sequence of intron 14 (IVS14-6C>A)leading to a 4 bp (GCAG) insertion in the mRNA at position 2220 and an inactivating frameshift in the C terminus of the protein (p.Q739insX42)

characteristic: gene

characteristic: mutation

text: FS

text: SPLICE ACCEPTOR C>A

text: Homo sapiens

text: Caucasian

text: Male

text: XPB

text: GM21153 male affected XPB sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND02010;unaffected father of ND02009

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND02011 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Hemoglobin--beta locus

text: 31 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;Hemoglobin E/beta thalassemia;diagnosed at age 11 years due to fatigue and lethargy;no significant childhood illnesses;delayed growth and sexual development;heart murmur (SEM II/VII);osteopenia;blood transfusion required about age 30 years due to hemoglobin less than 6.8;progressive increase in spleen size;hemoglobin electrophoresis results: HbA = 0%;HbA2 = 0%;HbF = 46.3%;HbS = 0%;HbE = 53.7%;hemoglobin = 8.3 g/dl;MCV = 62;donor subject has a G>A change in codon 26 of the HBB gene resulting in the substitution of lysine for glutamic acid Glu26Lys (E26K);normal and abnormal triplet seen at Beta 26;most likely to have deletional Beta Thalassemia;transfusion-dependent;currently on iron chelation therapy

text: HBB

text: Homo sapiens

characteristic: organism

text: East Indian

text: Male

text: Hemoglobin--beta locus

characteristic: tag

text: HBB

text: GM21154 male affected Hemoglobin--beta locus sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 71 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND02022 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

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;diagnosed via expanded newborn screening;unilateral hydronephrosis at 3.5 weeks of life;facial neonatal acne;inverted right nipple;donor subject is homozygous for an A>G transition at nucleotide 985 of the ACADM gene resulting in a substitution of glutamic acid for lysine at codon 304 Lys304Glu (K304E) .

characteristic: description

text: ACADM

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ACADM

text: Acyl-coa dehydrogenase, medium-chain

text: GM21192 male affected ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Epilepsy

text: 1 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: African American

text: Male

text: Epilepsy

text: ND02034 male affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Renal adysplasia

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;familial renal agenesis and absent mullerian duct derivatives;amenorrhea;absent uterus;vagina;and ovaries;absent kidney;46;XX;brother affected with Rokitansky-Kuster-Hauser syndrome is GM21496

text: proband

characteristic: karyotype

text: Homo sapiens

text: East Indian

text: Female

text: Renal adysplasia

text: Rokitansky-kuster-hauser syndrome

text: GM21261 female affected Renal adysplasia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 37 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: African American

text: Female

characteristic: sex

text: ND02035 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Ataxia-telangiectasia

text: 13 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;ataxia first observed between 16 and 18 months of age;wobbly walker;telangiectasias appeared at age 5 years;elevated serum alpha fetoprotein (129ng/ml);reduced levels of IgG;normal levels of IgA and IgM;no family history of cancer;donor is full time student in grade seven

text: ENGLISH/GERMAN

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: AT

characteristic: tag

text: Ataxia-telangiectasia

text: GM21285 male affected Ataxia-telangiectasia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: father

text: Homo sapiens

text: African American

text: Male

text: ND02036 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Fibromuscular dysplasia of arteries

text: 54 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;negative for COL3A1 procollagen III by protein electrophoresis;carotid dissection;joint and muscle pain;abnormal auricles;high palate;abnormal uvula;blue sclerae;systolic murmur;carotid bruit left;blood pressure 133/73;soft easily bruised skin;upper thoracic scoliosis;hyperextension of elbows;hips;and knees;pes planus;small hemangioma in the L2 vertebral body;minimal diffuse disc bulge at L4-L5 and L5-S1 with no disc herniation or neural foraminal narrowing;mild dural ectsia at S2;slightly thickened aorta;see GM21394 Fibroblast

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Fibromuscular dysplasia of arteries

text: GM21393 female affected Fibromuscular dysplasia of arteries sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND02038

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND02037 male affected Epilepsy sample


text: Coriell

text: live

text: Generic

text: Fibromuscular dysplasia of arteries

text: 54 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;negative for COL3A1 procollagen III by protein electrophoresis;carotid dissection;joint and muscle pain;abnormal auricles;high palate;abnormal uvula;blue sclerae;systolic murmur;carotid bruit left;blood pressure 133/73;soft easily bruised skin;upper thoracic scoliosis;hyperextension of elbows;hips;and knees;pes planus;small hemangioma in the L2 vertebral body;minimal diffuse disc bulge at L4-L5 and L5-S1 with no disc herniation or neural foraminal narrowing;mild dural ectsia at S2;slightly thickened aorta;see GM21393 Lymphoid

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Fibromuscular dysplasia of arteries

text: GM21394 female affected Fibromuscular dysplasia of arteries sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 74 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND02037

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND02038 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Rokitansky-kuster-hauser syndrome

text: 12 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;renal agenesis;inferiorly placed umbilicus;sister affected with urogenital agenesis is GM21261

text: brother

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: East Indian

text: Male

text: Rokitansky-kuster-hauser syndrome

characteristic: tag

text: GM21496 male affected Rokitansky-kuster-hauser syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

text: ND02040 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: MFS

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;aortic dissection;joint and neck pain;simple abnormal auricles;beaked nose;micrognathia;high palate;broad uvula;cataracts;downsloping ribs;pectus carinatum;wheezing;decreased breath sounds;blood pressure = 127/71;hyperextensibilty;cigarette paper scarring;striae;upper thoracic scoliosis;hyperextension of right shoulder;CMC joints;and DIP joints;limitation on left shoulder (flexion/extension) and neck mobility (left and right);pes planus;genu valga;arachnodactyly;poor sleep;asthma;fatigue;spine at C4-C5 has disc disease causing mild to moderate stenosis;disc desiccation at C5-C6;small hemangioma at the C6 vertebral body;donor has one allele with an A>G transition at nucleotide 83 of the FBN1 gene (c.83A>G) resulting in a substitution of a serine for an asparagine at codon 28 Asn28Ser (N28S);see GM21499 Fibroblast

characteristic: description

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Fibrillin 1

text: MFS

text: Marfan syndrome

text: GM21498 male affected MFS sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 68 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND02042 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: MFS

text: 47 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;aortic dissection;joint and neck pain;simple abnormal auricles;beaked nose;micrognathia;high palate;broad uvula;cataracts;downsloping ribs;pectus carinatum;wheezing;decreased breath sounds;blood pressure = 127/71;hyperextensibilty;cigarette paper scarring;striae;upper thoracic scoliosis;hyperextension of right shoulder;CMC joints;and DIP joints;limitation on left shoulder (flexion/extension) and neck mobility (left and right);pes planus;genu valga;arachnodactyly;poor sleep;asthma;fatigue;spine at C4-C5 has disc disease causing mild to moderate stenosis;disc desiccation at C5-C6;small hemangioma at the C6 vertebral body;donor has one allele with an A>G transition at nucleotide 83 of the FBN1 gene (c.83A>G) resulting in a substitution of a serine for an asparagine at codon 28 Asn28Ser (N28S);see GM21498 Lymphoid

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Fibrillin 1

characteristic: tag

text: MFS

text: Marfan syndrome

text: GM21499 male affected MFS sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 63 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND02045 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Fibromuscular dysplasia of arteries

text: 67 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;carotid and renal fibromuscular dysplasia;joint pain;malar hypoplasia;overbite;micrognathia;high palate;small nodule on left thyroid;absent gag reflex;abnormal pupil reaction and shape;downsloping ribs;pectus excavatum;systolic and diastolic murmur;carotid bruit left and right;blood pressure 117/66;hyperextensible skin;easily bruised;Piezogenic papules;upper thoracic scoliosis;cervical kyphosis;hyperextension in shoulders;elbows;hips and knees;neck mobility limited;pes planus present when standing;Beighton score = 5/9;difficulty swallowing;intermittent blurred vision;C-spine: disc disease at C6-C7 and C4-C5;low lying tonsils and pannus around odontoid;T-spine: dural ectasia throughout;disc disease at T2-T3;L-spine: spondylolisthesis at L5-S1 with dural cyst;facet arthrosis at all levels;see GM21506 Fibroblast

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Fibromuscular dysplasia of arteries

text: GM21505 female affected Fibromuscular dysplasia of arteries sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND02046 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Fibromuscular dysplasia of arteries

text: 67 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;carotid and renal fibromuscular dysplasia;joint pain;malar hypoplasia;overbite;micrognathia;high palate;small nodule on left thyroid;absent gag reflex;abnormal pupil reaction and shape;downsloping ribs;pectus excavatum;systolic and diastolic murmur;carotid bruit left and right;blood pressure 117/66;hyperextensible skin;easily bruised;Piezogenic papules;upper thoracic scoliosis;cervical kyphosis;hyperextension in shoulders;elbows;hips and knees;neck mobility limited;pes planus present when standing;Beighton score = 5/9;difficulty swallowing;intermittent blurred vision;C-spine: disc disease at C6-C7 and C4-C5;low lying tonsils and pannus around odontoid;T-spine: dural ectasia throughout;disc disease at T2-T3;L-spine: spondylolisthesis at L5-S1 with dural cyst;facet arthrosis at all levels;see GM21505 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Fibromuscular dysplasia of arteries

text: GM21506 female affected Fibromuscular dysplasia of arteries sample


text: Coriell

text: live

text: Generic

text: 82 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: first cousin once removed

text: Homo sapiens

text: Caucasian

text: Female

text: ND02053 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Otopalatodigital syndrome type 1

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;short stature;prominent supraorbital ridges;hypertelorism;abnormal fingers and toes;radioulnar synostosis;two affected sons

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Otopalatodigital syndrome type 1

text: GM21545 female affected Otopalatodigital syndrome type 1 sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND02055 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Ehlers-danlos syndrome type ii

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;joint pain and muscle weakness all over body;joint swelling in knees and ankles;malar hypoplasia;low gag reflex;high palate with large torus;blue sclerae;pectus excavatum;abnormal auscultation with rubs;2/6 grade systolic murmur;mild left carotid bruit;soft skin;extensive striae on abdomen;large piezogenic papules;degree R upper thoracic scoliosis;hyperextension in shoulders;elbows;hips;and CMC;MCP;PIP and DIP joints;bony enlargements in PIP and DIP joints;pes planus;genu valga;mild degenerative disc disease at all levels of cervical spine;dural ectasia in thoracic spine;significant dural ectasia with dural cysts and facet arthrosis in lumbar spine;mild beading in head;affected father is GM21558

text: CAUCASIAN/NATIVE AMERICAN

characteristic: ethnicity

text: proband

text: Homo sapiens

text: More than one race

text: Female

characteristic: tag

text: Ehlers-danlos syndrome type ii

text: GM21556 female affected Ehlers-danlos syndrome type ii sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 52 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND02069 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Ehlers-danlos syndrome type ii

text: 69 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;joint pain and swelling;muscle pain;malar hypoplasia;soft auricles;abnormal dentation;high palate;deviated uvula;no gag reflex;blue sclerae;mild pectus excavatum;hyperextensible skin;scarring on foot;piezogenic papules;degree R scoliosis in upper thoracic spine;kyphosis;hyperextension in left shoulder;both elbows;both knees;and MCP;PIP and DIP joints;bony enlargements and tenderness in CMC;MCP and PIP joints;limited neck mobility;pes planus;disc disease at C3-C4;moderate to severe spinal canal stenosis at C4-C6;Schmorl nodes at T7;T8 and T9;disc desiccation at L2-L4;mild diffuse disc buldge at L1-L3 and L4-S1;affected daughter is GM21556

characteristic: description

text: CAUCASIAN/NATIVE AMERICAN

text: father

text: Homo sapiens

text: More than one race

text: Male

text: Ehlers-danlos syndrome type ii

text: GM21558 male affected Ehlers-danlos syndrome type ii sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND02070 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Arterial, ecchymotic type

text: 51 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;history of aortic dissection/aneurysm and rupture;pain in shoulders (frequent dislocations);lumbar spine;left hip;and knees;micrognathia;abnormal pharynx;blue sclerae;carotid bruit left and right;cyanosis;varicosities;prior heart attack;blood pressure 123/78;skin soft texture and cigarette paper scars;keloids;bruising;scoliosis;hyperextension in shoulders and elbows;limitation in hips;pes planus;genu valga;uncovertebral spur on leftside at C5 to C7 causing spinal canal stenosis in lateral recess;see GM21567 Fibroblast;donor subject is heterozygous for a C>T transition at nucleotide 3070 in exon 43 of the COL3A1 gene (c.3070C>T) resulting in the substitution of a stop codon for an arginine at codon 1024 Arg1024Ter (R1024X)

characteristic: family id

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Arterial, ecchymotic type

text: Ehlers-danlos syndrome: type iv

text: Collagen type iii alpha-1

text: GM21566 male affected Arterial, ecchymotic type sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: ND02071 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample