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Search Results for -
COCKAYNE SYNDROME TYPE A - 216400 OR TYPE III - 216411
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Also searched for:
CKN1
COCKAYNE SYNDROME, TYPE A
COCKAYNE SYNDROME, TYPE III
CS, TYPE C
CSA
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Repository:
NINDS Repository
(14411)
NIGMS Human Genetic Cell Repository
(10426)
NIA Aging Cell Culture Repository
(2466)
HD Community Biorepository
(140)
NHGRI Sample Repository for Human Genetic Research
(64)
Centers for Disease Control and Prevention Repository
(27)
Autism
(10)
Orphan Disease Center
(10)
Allen Cell Collection
(5)
Collection:
Heritable Diseases
(8711)
Tourette Syndrome
(4382)
Motor Neuron Disease
(4067)
Cerebrovascular Disease
(3254)
Chromosome Abnormalities
(1614)
Parkinsonism
(1539)
PIGI Consented Sample
(1038)
Apparently Healthy Collection
(831)
GRC
(784)
Lysosomal Storage Diseases
(702)
Epilepsy
(577)
Dystonia
(457)
Muscular Dystrophies
(441)
dbGaP
(434)
Human Variation
(424)
GeT-RM Samples
(378)
Hybrids
(370)
Hereditary Cancers
(366)
Control
(264)
Old Order Amish Major Affective Disorder
(240)
Canadian Alzheimer Disease
(226)
Maturity-Onset Diabetes of the Young
(222)
Animals
(201)
CMD Specific
(193)
Venezuelan Huntington Disease
(193)
Alzheimer's Disease
(184)
University of Georgia Centenarian Study
(142)
Pharmacogenetics
(138)
Retinitis Pigmentosa Foundation Collection
(137)
CEPH
(109)
Disorders of the Urea Cycle
(109)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(98)
FOXG1
(93)
German Alzheimer Disease
(87)
Italian Alzheimer Disease
(68)
NHGRI Sample Repository for Human Genetic Research
(64)
Whole-Genome Sequence
(53)
Repository Linkage Families
(50)
Aged Sib Pairs
(47)
Ames Dwarf Mice
(47)
Alzheimer Disease With No Family History
(29)
Apparently healthy iPSCs
(26)
DGAP
(19)
Nonhuman Primates
(16)
Gene-Edited hiPSC
(14)
Engineered Cell Cultures
(13)
Specially Characterized Fibroblasts
(11)
Non-Healing Wound Collection
(10)
Frontotemporal Degeneration
(2)
Additional PSP subjects (others grouped with Parkinsonism)
(1)
Product:
DNA
(14627)
LCL
(8799)
Fibroblast
(3407)
Somatic cell hybrid
(229)
iPSC
(184)
Plasmid
(117)
Endothelial
(34)
High Molecular Weight DNA
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Smooth muscle
(28)
Amniotic fluid-derived cell line
(20)
Adipose stromal cell
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Epithelial
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Neuronally-derived
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(11)
Antibodies
(6)
Protein
(4)
Chorionic villus-derived cell line
(3)
Kidney-derived cell line
(2)
Mesothelial
(2)
Cytoplasmic transfer (cybrid)
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Erythroleukemic cell line
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FFPE
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Hybridoma
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Keratinocyte
(1)
Melanocyte
(1)
Microcell hybrid
(1)
Myeloma
(1)
aging mapping panel
(1)
Affected:
Yes
(18115)
No
(4256)
At Risk
(2723)
Unknown
(199)
Mutation Data Available:
N
(22839)
Y
(4719)
No
(1)
Source:
B-Lymphocyte
(8836)
Whole Blood
(7598)
LCL
(5931)
Fibroblast
(1080)
Skin, Arm
(988)
Skin, Unspecified
(371)
Skin, Skin
(199)
Somatic cell hybrid
(141)
Lung, Lung
(67)
Skin, Ear
(58)
Skin, Thigh
(48)
Aorta, thoracic
(27)
Blood
(25)
Amniotic fluid
(20)
Skin, Abdomen
(14)
Brain striatum
(13)
Trachealis muscle
(12)
Amniotic fluid-derived cell line
(11)
Vein, iliac
(11)
Skin, Posterior iliac crest
(9)
Skin, Thorax
(9)
Artery, iliac
(8)
Skin, Buttock
(8)
Skin, Buttock-thigh
(8)
Stem cell
(8)
Skin, Sacrum
(7)
Breast organoid
(6)
Skin, Back
(6)
Skin, Foreskin
(6)
Skin, Leg
(6)
Skin, Thorax/abdomen
(6)
Umbilical Cord, Umbilical cord
(6)
Epithelial
(5)
Fetal, Unspecified
(5)
Embryonal carcinoma
(4)
Eye
(4)
Retina of eye
(4)
Skin, Hip
(4)
Chorionic villus
(3)
Chorionic villus-derived cell line
(3)
Gonad, Gonad
(3)
Gonad, Ovary
(3)
Kidney, Kidney
(3)
Liver, Liver
(3)
Muscle, Unspecified
(3)
Placental, Placenta
(3)
Skin, Fetal
(3)
Skin, Genital area
(3)
Skin, Right ischium
(3)
Artery, pulmonary
(2)
Bladder carcinoma
(2)
Endometrial, Uterus
(2)
Heart, Pericardium
(2)
Kidney
(2)
Lung
(2)
Skin, Labialscrotal fold
(2)
Tumor-derived cell line
(2)
Whole embryo, Embryo
(2)
Adenocarcinoma
(1)
Adrenal cortex tumor
(1)
Amnion, Amnion
(1)
Aorta, abdominal
(1)
Artery, Aorta, thoracic
(1)
Ascites fluid, Ascites fluid
(1)
Brain, Unspecified
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
(1)
Chest
(1)
Cornea, Cornea
(1)
Endothelial
(1)
Fetal, Arm
(1)
Gingival, Gum
(1)
Gonad, Testes
(1)
Heart, Unspecified
(1)
Lens, Eye
(1)
Ligament, Teeth
(1)
Peripheral Vein
(1)
Skin, Axilla
(1)
Skin, Breast
(1)
Skin, Calf
(1)
Skin, Chest
(1)
Skin, Flank
(1)
Skin, Foot
(1)
Skin, Scalp
(1)
Skin, Thoraco-lumbar junction
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Skin, Toe
(1)
Smooth muscle
(1)
Spleen, Keloid
(1)
Tendon, Achilles tendon
(1)
Tendon, Leg
(1)
Tumor
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Tumor, Abdomen
(1)
Tumor, Adenoma
(1)
Tumor, Fibroma
(1)
Tumor, Hepatoblastoma
(1)
Tumor, Neurofibroma
(1)
Umbilical Cord, Vein, umbilical
(1)
Vein, umbilical
(1)
Sex:
Male
(13955)
Female
(12984)
Other
(11)
Race:
White
(21892)
Black/African American
(1048)
More than one race
(520)
Asian
(427)
Other
(369)
Asiatic Indian
(228)
Unknown
(189)
Hispanic/Latino
(90)
American Indian/Alaska Native
(74)
East Indian
(57)
Not Reported
(37)
Native Hawaiian/Other Pacific Islander
(28)
Asian, Other
(24)
Caucasian
(14)
Chinese
(10)
Filipino
(7)
Korean
(5)
Japanese
(3)
Vietnamese
(1)
dbGap Data Available:
No
(23577)
Yes
(3982)
Extended Clinical Data Available:
Yes
(14930)
No
(12629)
Age at Sampling (Years):
45-54
(3892)
35-44
(3601)
55-64
(3580)
5-14
(3473)
15-24
(2735)
25-34
(2617)
65-74
(2527)
0-4
(1793)
75-89
(1289)
90-99
(105)
100+
(9)
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