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Search Results for -
COCKAYNE SYNDROME, TYPE B
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Also searched for:
CKN2
CSB
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Repository:
NINDS Repository
(31362)
NIGMS Human Genetic Cell Repository
(15166)
NHGRI Sample Repository for Human Genetic Research
(7468)
NIA Aging Cell Culture Repository
(2573)
Autism
(362)
AREDS
(274)
Centers for Disease Control and Prevention Repository
(12)
Orphan Disease Center
(8)
Allen Cell Collection
(3)
Collection:
Heritable Diseases
(10160)
NHGRI Sample Repository for Human Genetic Research
(7468)
Parkinsonism
(6728)
Cerebrovascular Disease
(6724)
Control
(6329)
Motor Neuron Disease
(5377)
Tourette Syndrome
(4382)
Epilepsy
(3158)
Chromosome Abnormalities
(2051)
Human Variation
(1799)
CEPH
(1615)
Apparently Healthy Collection
(1246)
PIGI Consented Sample
(1212)
dbGaP
(1158)
Old Order Amish Major Affective Disorder
(981)
Repository Linkage Families
(816)
University of Georgia Centenarian Study
(716)
Lysosomal Storage Diseases
(636)
GeT-RM Samples
(498)
Muscular Dystrophies
(478)
Hereditary Cancers
(363)
The 90+ Study
(331)
Pharmacogenetics
(322)
Dystonia
(301)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(260)
CMD Specific
(226)
Canadian Alzheimer Disease
(226)
Maturity-Onset Diabetes of the Young
(222)
Retinitis Pigmentosa Foundation Collection
(194)
Alzheimer's Disease
(184)
Disorders of the Urea Cycle
(184)
Venezuelan Huntington Disease
(184)
FOXG1
(93)
Italian Alzheimer Disease
(86)
Hybrids
(76)
Aged Sib Pairs
(73)
DGAP
(58)
German Alzheimer Disease
(52)
Whole-Genome Sequence
(51)
Animals
(32)
Nonhuman Primates
(14)
Gene-Edited hiPSC
(10)
Alzheimer Disease With No Family History
(9)
Apparently healthy iPSCs
(9)
Engineered Cell Cultures
(6)
Specially Characterized Fibroblasts
(6)
Stem Cell Collection
(4)
Prostate Cancer
(3)
Frontotemporal Degeneration
(2)
Non-Healing Wound Collection
(2)
Additional PSP subjects (others grouped with Parkinsonism)
(1)
Ames Dwarf Mice
(1)
Product:
DNA
(29035)
LCL
(25939)
Fibroblast
(1975)
iPSC
(126)
Somatic cell hybrid
(64)
High Molecular Weight DNA
(59)
Amniotic fluid-derived cell line
(14)
mESC
(4)
Hybridoma
(3)
Tumor-derived cell line
(2)
Adipose stromal cell
(1)
Chorionic villus-derived cell line
(1)
Cytoplasmic transfer (cybrid)
(1)
FFPE
(1)
Keratinocyte
(1)
Microcell hybrid
(1)
aging mapping panel
(1)
Affected:
Yes
(28915)
No
(12591)
At Risk
(3356)
Unknown
(3163)
Mutation Data Available:
N
(51850)
Y
(5377)
No
(1)
Source:
B-Lymphocyte
(26280)
LCL
(21568)
Whole Blood
(6602)
Fibroblast
(661)
Skin, Unspecified
(280)
Skin, Arm
(222)
Skin, Skin
(158)
Skin, Thigh
(42)
Lung, Lung
(33)
Blood
(21)
Amniotic fluid
(14)
Somatic cell hybrid
(12)
Skin, Posterior iliac crest
(9)
Skin, Thorax
(8)
Amniotic fluid-derived cell line
(7)
Skin, Back
(6)
Skin, Buttock
(4)
Skin, Leg
(4)
Stem cell
(4)
Umbilical Cord, Umbilical cord
(4)
Fetal, Unspecified
(3)
Kidney, Kidney
(3)
Liver, Liver
(3)
Muscle, Unspecified
(3)
Skin, Genital area
(3)
Skin, Hip
(3)
Gonad, Gonad
(2)
Placental, Placenta
(2)
Skin, Fetal
(2)
Skin, Labialscrotal fold
(2)
Skin, Thorax/abdomen
(2)
Spleen, Keloid
(2)
T-Lymphocyte
(2)
Amnion, Amnion
(1)
Brain, Brain
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
(1)
Chest
(1)
Chorionic villus
(1)
Chorionic villus-derived cell line
(1)
Cornea, Cornea
(1)
Gingival, Gum
(1)
Gonad, Testes
(1)
Heart, Pericardium
(1)
Heart, Unspecified
(1)
Lens, Eye
(1)
Ligament, Teeth
(1)
Skin, Abdomen
(1)
Skin, Axilla
(1)
Skin, Buttock-thigh
(1)
Skin, Calf
(1)
Skin, Flank
(1)
Skin, Foot
(1)
Skin, Foreskin
(1)
Skin, Sacrum
(1)
Tumor
(1)
Tumor, Abdomen
(1)
Tumor, Adenoma
(1)
Tumor, Fibroma
(1)
Tumor, Hepatoblastoma
(1)
Tumor, Neurofibroma
(1)
Tumor-derived cell line
(1)
Umbilical Cord, Vein, umbilical
(1)
Sex:
Female
(28666)
Male
(28097)
Other
(16)
Race:
White
(39052)
Black/African American
(3114)
More than one race
(770)
Asian
(733)
Other
(537)
Unknown
(437)
Hispanic/Latino
(322)
Caucasian
(315)
Asiatic Indian
(235)
Chinese
(218)
American Indian/Alaska Native
(129)
Native Hawaiian/Other Pacific Islander
(65)
East Indian
(59)
Not Reported
(40)
Asian, Other
(27)
Filipino
(10)
Korean
(6)
Japanese
(3)
Vietnamese
(3)
dbGap Data Available:
No
(46841)
Yes
(10387)
Extended Clinical Data Available:
Yes
(32151)
No
(25077)
Age at Sampling (Years):
45-54
(7489)
55-64
(7348)
35-44
(6135)
65-74
(5712)
5-14
(4799)
25-34
(4480)
15-24
(3784)
75-89
(3193)
0-4
(2408)
90-99
(618)
100+
(226)
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