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LOUIS-BAR SYNDROME
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28989 results
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Repository:
NINDS Repository
(15002)
NIGMS Human Genetic Cell Repository
(7875)
NHGRI Sample Repository for Human Genetic Research
(4958)
NIA Aging Cell Culture Repository
(1017)
Allen Cell Collection
(47)
HD Community Biorepository
(32)
Centers for Disease Control and Prevention Repository
(23)
NIAID - USIDnet
(21)
Autism
(14)
Collection:
Heritable Diseases
(6904)
Human Variation
(5007)
Tourette Syndrome
(4382)
Cerebrovascular Disease
(3979)
Epilepsy
(2627)
Parkinsonism
(1892)
Control
(1555)
Chromosome Abnormalities
(1540)
PIGI Consented Sample
(664)
Lysosomal Storage Diseases
(538)
Motor Neuron Disease
(516)
dbGaP
(425)
GeT-RM Samples
(314)
Muscular Dystrophies
(290)
Hereditary Cancers
(278)
Dystonia
(247)
Hybrids
(220)
Apparently Healthy Collection
(208)
Old Order Amish Major Affective Disorder
(200)
Canadian Alzheimer Disease
(162)
Pharmacogenetics
(153)
Venezuelan Huntington Disease
(146)
CMD Specific
(145)
Disorders of the Urea Cycle
(141)
Alzheimer's Disease
(111)
Retinitis Pigmentosa Foundation Collection
(105)
Animals
(96)
CEPH
(95)
Italian Alzheimer Disease
(92)
FOXG1
(86)
Maturity-Onset Diabetes of the Young
(82)
German Alzheimer Disease
(76)
Ames Dwarf Mice
(47)
Repository Linkage Families
(45)
DGAP
(23)
GRC
(21)
Alzheimer Disease With No Family History
(14)
Specially Characterized Fibroblasts
(10)
Gene-Edited hiPSC
(8)
Nonhuman Primates
(8)
Aged Sib Pairs
(7)
Whole-Genome Sequence
(6)
Apparently healthy iPSCs
(4)
Non-Healing Wound Collection
(4)
Prostate Cancer
(3)
Engineered Cell Cultures
(2)
Frontotemporal Degeneration
(2)
Additional PSP subjects (others grouped with Parkinsonism)
(1)
Product:
DNA
(17660)
LCL
(8657)
Fibroblast
(2237)
Somatic cell hybrid
(149)
iPSC
(144)
Plasmid
(29)
Amniotic fluid-derived cell line
(22)
Smooth muscle
(19)
Adipose stromal cell
(18)
High Molecular Weight DNA
(17)
Endothelial
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Epithelial
(6)
Tumor-derived cell line
(5)
Neuronally-derived
(3)
Chorionic villus-derived cell line
(1)
Cytoplasmic transfer (cybrid)
(1)
FFPE
(1)
Keratinocyte
(1)
Microcell hybrid
(1)
aging mapping panel
(1)
Affected:
Yes
(13194)
At Risk
(6101)
No
(3016)
Unknown
(2591)
Mutation Data Available:
N
(24972)
Y
(4016)
No
(1)
Source:
Whole Blood
(10598)
B-Lymphocyte
(8678)
LCL
(6406)
Fibroblast
(651)
Skin, Unspecified
(314)
Skin, Arm
(313)
Skin, Skin
(171)
Somatic cell hybrid
(71)
Skin, Ear
(49)
Skin, Thigh
(44)
Amniotic fluid
(22)
Lung, Lung
(17)
Aorta, thoracic
(16)
Skin, Posterior iliac crest
(12)
Trachealis muscle
(11)
Amniotic fluid-derived cell line
(10)
Blood
(9)
Skin, Abdomen
(8)
Skin, Thorax
(8)
Breast organoid
(6)
Fetal, Unspecified
(6)
Skin, Back
(5)
Liver, Liver
(4)
Skin, Buttock
(4)
Skin, Fetal
(4)
Skin, Leg
(4)
Artery, iliac
(3)
Brain striatum
(3)
Kidney, Kidney
(3)
Placental, Placenta
(3)
Skin, Buttock-thigh
(3)
Skin, Thorax/abdomen
(3)
Vein, iliac
(3)
Aortic arch
(2)
Skin, Foreskin
(2)
Skin, Hip
(2)
Skin, Lung
(2)
Skin, Right ischium
(2)
Tumor
(2)
Tumor-derived cell line
(2)
Umbilical Cord, Umbilical cord
(2)
Whole embryo, Embryo
(2)
Amnion, Amnion
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
(1)
Chorionic villus
(1)
Chorionic villus-derived cell line
(1)
Epithelial
(1)
Gingival, Gum
(1)
Gonad, Gonad
(1)
Gonad, Testes
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Heart, Pericardium
(1)
Heart, Unspecified
(1)
Lens, Eye
(1)
Ligament, Teeth
(1)
Muscle, Unspecified
(1)
Neuroepithelioma
(1)
Osteosarcoma
(1)
PBMC
(1)
Peripheral Vein
(1)
Skin, Axilla
(1)
Skin, Calf
(1)
Skin, Chest
(1)
Skin, Flank
(1)
Skin, Foot
(1)
Skin, Labialscrotal fold
(1)
Skin, Neck
(1)
Skin, Sacral area
(1)
Skin, Sacrum
(1)
Skin, Scalp
(1)
Skin, Shoulder
(1)
Skin, Thoraco-lumbar junction
(1)
Spleen, Keloid
(1)
Tendon, Achilles tendon
(1)
Tumor, Abdomen
(1)
Tumor, Adenoma
(1)
Tumor, Fibroma
(1)
Tumor, Hepatoblastoma
(1)
Umbilical Cord, Vein, umbilical
(1)
Sex:
Female
(14650)
Male
(13991)
Other
(6)
Race:
White
(16998)
Black/African American
(3189)
More than one race
(829)
Asian
(391)
Other
(274)
Unknown
(214)
Hispanic/Latino
(118)
American Indian/Alaska Native
(63)
East Indian
(41)
Not Reported
(31)
Asiatic Indian
(21)
Native Hawaiian/Other Pacific Islander
(20)
Asian, Other
(19)
Caucasian
(17)
Filipino
(7)
Chinese
(2)
Japanese
(2)
Korean
(2)
dbGap Data Available:
No
(25621)
Yes
(3368)
Extended Clinical Data Available:
Yes
(15406)
No
(13583)
Age at Sampling (Years):
35-44
(3289)
55-64
(3189)
5-14
(3131)
45-54
(3124)
65-74
(2504)
15-24
(2473)
25-34
(2432)
0-4
(1423)
75-89
(1251)
90-99
(48)
100+
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