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Search Results for -
%22BLOOM SYNDROME%22
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Repository:
NIA Aging Cell Culture Repository
(469)
NINDS Repository
(5316)
NIGMS Human Genetic Cell Repository
(4650)
Orphan Disease Center
(13)
Autism
(8)
Allen Cell Collection
(6)
HD Community Biorepository
(5)
NHGRI Sample Repository for Human Genetic Research
(4)
Centers for Disease Control and Prevention Repository
(2)
Collection:
Tourette Syndrome
(4382)
Heritable Diseases
(3785)
Chromosome Abnormalities
(1333)
PIGI Consented Sample
(629)
Parkinsonism
(502)
dbGaP
(344)
Lysosomal Storage Diseases
(230)
Apparently Healthy Collection
(186)
Hybrids
(170)
GeT-RM Samples
(155)
Motor Neuron Disease
(155)
Hereditary Cancers
(107)
Epilepsy
(104)
Control
(92)
FOXG1
(90)
Human Variation
(68)
Retinitis Pigmentosa Foundation Collection
(57)
Muscular Dystrophies
(50)
Dystonia
(49)
Old Order Amish Major Affective Disorder
(44)
Pharmacogenetics
(40)
Cerebrovascular Disease
(36)
DGAP
(36)
GRC
(30)
CEPH
(17)
CMD Specific
(17)
Animals
(15)
Venezuelan Huntington Disease
(12)
Apparently healthy iPSCs
(11)
Gene-Edited hiPSC
(11)
University of Georgia Centenarian Study
(11)
Disorders of the Urea Cycle
(10)
Maturity-Onset Diabetes of the Young
(10)
Canadian Alzheimer Disease
(9)
Whole-Genome Sequence
(9)
Repository Linkage Families
(8)
Alzheimer's Disease
(7)
Italian Alzheimer Disease
(7)
German Alzheimer Disease
(6)
Engineered Cell Cultures
(4)
NHGRI Sample Repository for Human Genetic Research
(4)
Aged Sib Pairs
(3)
Alzheimer Disease With No Family History
(3)
Nonhuman Primates
(3)
Stem Cell Collection
(2)
Additional PSP subjects (others grouped with Parkinsonism)
(1)
Product:
DNA
(6355)
LCL
(2569)
Fibroblast
(1259)
iPSC
(116)
Somatic cell hybrid
(109)
Amniotic fluid-derived cell line
(15)
High Molecular Weight DNA
(10)
Endothelial
(9)
Epithelial
(5)
Plasmid
(5)
Tumor-derived cell line
(5)
Adipose stromal cell
(4)
Smooth muscle
(4)
Chorionic villus-derived cell line
(2)
mESC
(2)
Cytoplasmic transfer (cybrid)
(1)
Keratinocyte
(1)
aging mapping panel
(1)
hybrid regional mapping panel
(1)
Affected:
Yes
(6957)
No
(1286)
At Risk
(1263)
Unknown
(97)
Mutation Data Available:
N
(8580)
Y
(1891)
No
(2)
Source:
Whole Blood
(4559)
B-Lymphocyte
(2585)
LCL
(1347)
Fibroblast
(466)
Skin, Unspecified
(199)
Skin, Arm
(133)
Skin, Skin
(130)
Somatic cell hybrid
(60)
Skin, Thigh
(41)
Amniotic fluid
(15)
Blood
(15)
Lung, Lung
(15)
Skin, Thorax
(8)
Stem cell
(7)
Amniotic fluid-derived cell line
(5)
Aorta, thoracic
(5)
Skin, Abdomen
(5)
Skin, Back
(5)
Placental, Placenta
(4)
Vein, iliac
(4)
Breast organoid
(3)
Skin, Genital area
(3)
Skin, Hip
(3)
Skin, Leg
(3)
Umbilical Cord, Umbilical cord
(3)
Bladder carcinoma
(2)
Chorionic villus
(2)
Epithelial
(2)
Fetal, Unspecified
(2)
Gingival, Gum
(2)
Gonad, Gonad
(2)
Kidney, Kidney
(2)
Leiomyoma
(2)
Liver, Liver
(2)
Muscle, Unspecified
(2)
Retina of eye
(2)
Skin, Buttock
(2)
Skin, Foreskin
(2)
Skin, Thorax/abdomen
(2)
Smooth muscle
(2)
Whole embryo, Embryo
(2)
Adenocarcinoma
(1)
Amnion, Amnion
(1)
Artery, iliac
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
(1)
Chorionic villus-derived cell line
(1)
Ewing sarcoma
(1)
Gonad, Testes
(1)
Heart, Unspecified
(1)
Ligament, Teeth
(1)
Neuroepithelioma
(1)
Skin, Axilla
(1)
Skin, Buttock-thigh
(1)
Skin, Fetal
(1)
Skin, Flank
(1)
Skin, Labialscrotal fold
(1)
Skin, Posterior iliac crest
(1)
Skin, Sacrum
(1)
Spleen, Keloid
(1)
Tumor, Abdomen
(1)
Tumor, Adenoma
(1)
Tumor, Fibroma
(1)
Tumor, Hepatoblastoma
(1)
Umbilical Cord, Vein, umbilical
(1)
Vein, umbilical
(1)
Sex:
Male
(5615)
Female
(4652)
Other
(7)
Race:
White
(8096)
More than one race
(365)
Black/African American
(301)
Asian
(178)
Other
(117)
Hispanic/Latino
(76)
Unknown
(45)
American Indian/Alaska Native
(20)
Asiatic Indian
(19)
East Indian
(16)
Chinese
(12)
Not Reported
(11)
Asian, Other
(9)
Caucasian
(9)
Native Hawaiian/Other Pacific Islander
(5)
Filipino
(3)
Japanese
(2)
Korean
(2)
dbGap Data Available:
No
(8044)
Yes
(2429)
Extended Clinical Data Available:
Yes
(5591)
No
(4882)
Age at Sampling (Years):
5-14
(2324)
15-24
(1797)
35-44
(1404)
45-54
(1013)
25-34
(1008)
0-4
(871)
55-64
(645)
65-74
(480)
75-89
(181)
90-99
(8)
100+
(2)
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