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Search Results for -
%22COCKAYNE%20SYNDROME%20TYPE%20A%20-%20216400%20OR%20TYPE%20III%20-%20216411%22
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Repository:
NIGMS Human Genetic Cell Repository
(2309)
NINDS Repository
(757)
NIA Aging Cell Culture Repository
(560)
NHGRI Sample Repository for Human Genetic Research
(213)
Orphan Disease Center
(13)
Allen Cell Collection
(9)
HD Community Biorepository
(5)
Autism
(2)
Collection:
Heritable Diseases
(1424)
Chromosome Abnormalities
(517)
Apparently Healthy Collection
(318)
PIGI Consented Sample
(224)
dbGaP
(223)
University of Georgia Centenarian Study
(219)
NHGRI Sample Repository for Human Genetic Research
(213)
Epilepsy
(201)
Hybrids
(169)
Human Variation
(167)
Motor Neuron Disease
(155)
Control
(131)
Tourette Syndrome
(120)
Old Order Amish Major Affective Disorder
(107)
Pharmacogenetics
(99)
Lysosomal Storage Diseases
(96)
GeT-RM Samples
(92)
CEPH
(79)
Cerebrovascular Disease
(76)
GRC
(67)
Retinitis Pigmentosa Foundation Collection
(60)
Muscular Dystrophies
(54)
Parkinsonism
(44)
Repository Linkage Families
(40)
Animals
(39)
Hereditary Cancers
(37)
Apparently healthy iPSCs
(33)
DGAP
(33)
Dystonia
(30)
Alzheimer's Disease
(27)
CMD Specific
(26)
Venezuelan Huntington Disease
(23)
Canadian Alzheimer Disease
(19)
FOXG1
(19)
Maturity-Onset Diabetes of the Young
(19)
Nonhuman Primates
(13)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(12)
Gene-Edited hiPSC
(11)
German Alzheimer Disease
(10)
Alzheimer Disease With No Family History
(9)
Italian Alzheimer Disease
(9)
Disorders of the Urea Cycle
(7)
Stem Cell Collection
(6)
Whole-Genome Sequence
(6)
Aged Sib Pairs
(4)
Specially Characterized Fibroblasts
(4)
Engineered Cell Cultures
(3)
Ames Dwarf Mice
(2)
Non-Healing Wound Collection
(2)
Product:
DNA
(1563)
LCL
(1369)
Fibroblast
(594)
iPSC
(163)
Somatic cell hybrid
(95)
High Molecular Weight DNA
(15)
Endothelial
(14)
Adipose stromal cell
(12)
Amniotic fluid-derived cell line
(9)
Smooth muscle
(6)
Tumor-derived cell line
(6)
mESC
(6)
Epithelial
(5)
Plasmid
(5)
Chorionic villus-derived cell line
(2)
FFPE
(1)
Melanocyte
(1)
aging mapping panel
(1)
hybrid regional mapping panel
(1)
Affected:
Yes
(1748)
No
(1214)
Unknown
(126)
At Risk
(65)
Mutation Data Available:
N
(2866)
Y
(1000)
No
(2)
Source:
B-Lymphocyte
(1390)
LCL
(869)
Whole Blood
(429)
Fibroblast
(303)
Skin, Arm
(99)
Somatic cell hybrid
(73)
Skin, Unspecified
(69)
Skin, Skin
(45)
Skin, Foreskin
(35)
Blood
(24)
Lung, Lung
(20)
Stem cell
(12)
Amniotic fluid
(9)
Aorta, thoracic
(8)
Skin, Abdomen
(8)
Skin, Thigh
(7)
Vein, iliac
(5)
Skin, Buttock
(4)
Breast organoid
(3)
Fetal, Unspecified
(3)
Placental, Placenta
(3)
Skin, Buttock-thigh
(3)
Skin, Leg
(3)
Skin, Posterior iliac crest
(3)
Amniotic fluid-derived cell line
(2)
Artery, iliac
(2)
Bladder carcinoma
(2)
Chorionic villus
(2)
Conjunctiva, Conjunctiva
(2)
Epithelial
(2)
Leiomyoma
(2)
Retina of eye
(2)
Skin, Ear
(2)
Skin, Hip
(2)
Smooth muscle
(2)
Umbilical Cord, Umbilical cord
(2)
Whole embryo, Embryo
(2)
Adenocarcinoma
(1)
Aorta, abdominal
(1)
Artery, pulmonary
(1)
Cartilage, Unspecified
(1)
Chest
(1)
Chorionic villus-derived cell line
(1)
Endothelial
(1)
Ewing sarcoma
(1)
Gingival, Gum
(1)
Gonad, Testes
(1)
Kidney, Kidney
(1)
Liver, Liver
(1)
Muscle, Unspecified
(1)
Neuroepithelioma
(1)
Skin, Fetal
(1)
Skin, Flank
(1)
Skin, Inguinal area
(1)
Skin, Omentum
(1)
Skin, Sacral area
(1)
Skin, Sacrum
(1)
Skin, Shoulder
(1)
Skin, Thorax
(1)
Spleen, Keloid
(1)
T-Lymphocyte
(1)
Tendon, Achilles tendon
(1)
Umbilical Cord, Vein, umbilical
(1)
Vein, umbilical
(1)
Sex:
Female
(1909)
Male
(1747)
Other
(8)
Race:
White
(2489)
Black/African American
(258)
Asian
(57)
Hispanic/Latino
(47)
More than one race
(47)
Chinese
(33)
Other
(31)
Unknown
(26)
Asiatic Indian
(12)
East Indian
(10)
Not Reported
(9)
American Indian/Alaska Native
(7)
Native Hawaiian/Other Pacific Islander
(4)
Asian, Other
(2)
Caucasian
(2)
Filipino
(2)
Korean
(2)
Japanese
(1)
Vietnamese
(1)
dbGap Data Available:
No
(3658)
Yes
(210)
Extended Clinical Data Available:
No
(3019)
Yes
(849)
Age at Sampling (Years):
15-24
(1315)
0-4
(460)
35-44
(280)
25-34
(266)
45-54
(253)
5-14
(246)
55-64
(225)
65-74
(118)
75-89
(51)
90-99
(4)
100+
(2)
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