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LOUIS-BAR SYNDROME
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Repository:
NINDS Repository
(15021)
NIGMS Human Genetic Cell Repository
(8176)
NHGRI Sample Repository for Human Genetic Research
(4962)
AREDS2
(1889)
NIA Aging Cell Culture Repository
(1089)
Allen Cell Collection
(57)
HD Community Biorepository
(32)
Centers for Disease Control and Prevention Repository
(23)
Autism
(14)
Orphan Disease Center
(6)
Collection:
Heritable Diseases
(7216)
NHGRI Sample Repository for Human Genetic Research
(4962)
Tourette Syndrome
(4382)
Cerebrovascular Disease
(3983)
Epilepsy
(2636)
Parkinsonism
(1898)
Chromosome Abnormalities
(1566)
Control
(1555)
PIGI Consented Sample
(807)
Lysosomal Storage Diseases
(550)
Motor Neuron Disease
(516)
dbGaP
(414)
GeT-RM Samples
(314)
Muscular Dystrophies
(309)
Hereditary Cancers
(282)
Dystonia
(247)
Hybrids
(218)
Apparently Healthy Collection
(213)
Old Order Amish Major Affective Disorder
(200)
Canadian Alzheimer Disease
(173)
CMD Specific
(164)
Retinitis Pigmentosa Foundation Collection
(154)
Venezuelan Huntington Disease
(151)
Disorders of the Urea Cycle
(141)
Alzheimer's Disease
(116)
Pharmacogenetics
(107)
Animals
(96)
CEPH
(95)
FOXG1
(93)
Italian Alzheimer Disease
(92)
Maturity-Onset Diabetes of the Young
(82)
German Alzheimer Disease
(80)
Human Variation
(70)
Ames Dwarf Mice
(47)
Repository Linkage Families
(45)
DGAP
(25)
GRC
(21)
Alzheimer Disease With No Family History
(14)
Specially Characterized Fibroblasts
(10)
Gene-Edited hiPSC
(9)
Nonhuman Primates
(8)
Aged Sib Pairs
(7)
Whole-Genome Sequence
(7)
Cardiomyopathy
(6)
Apparently healthy iPSCs
(5)
Non-Healing Wound Collection
(4)
Prostate Cancer
(3)
Engineered Cell Cultures
(2)
Frontotemporal Degeneration
(2)
Additional PSP subjects (others grouped with Parkinsonism)
(1)
Laminopathy
(1)
Skeletal Myopathy
(1)
Product:
DNA
(19787)
LCL
(8721)
Fibroblast
(2282)
iPSC
(173)
Somatic cell hybrid
(148)
Plasmid
(29)
High Molecular Weight DNA
(24)
Amniotic fluid-derived cell line
(22)
Smooth muscle
(19)
Adipose stromal cell
(18)
Endothelial
(16)
Collection of iPSC
(8)
Epithelial
(6)
Tumor-derived cell line
(5)
Neuronally-derived
(3)
Antibodies
(2)
Chorionic villus-derived cell line
(1)
Cytoplasmic transfer (cybrid)
(1)
FFPE
(1)
Keratinocyte
(1)
Microcell hybrid
(1)
aging mapping panel
(1)
Affected:
Yes
(15311)
At Risk
(6121)
No
(3160)
Unknown
(2593)
Mutation Data Available:
N
(26949)
Y
(4311)
No
(9)
Source:
Whole Blood
(10861)
B-Lymphocyte
(8747)
LCL
(6565)
Fibroblast
(750)
Skin, Arm
(320)
Skin, Unspecified
(316)
Skin, Skin
(181)
Somatic cell hybrid
(70)
Stem cell
(50)
Skin, Ear
(49)
Skin, Thigh
(45)
Blood
(24)
Amniotic fluid
(22)
Lung, Lung
(19)
Aorta, thoracic
(16)
Skin, Posterior iliac crest
(12)
Amniotic fluid-derived cell line
(11)
Trachealis muscle
(11)
Skin, Abdomen
(9)
Skin, Thorax
(8)
Breast organoid
(6)
Fetal, Unspecified
(6)
Skin, Back
(6)
Liver, Liver
(4)
Skin, Buttock
(4)
Skin, Fetal
(4)
Skin, Hip
(4)
Skin, Leg
(4)
Artery, iliac
(3)
Brain striatum
(3)
Kidney, Kidney
(3)
Placental, Placenta
(3)
Skin, Buttock-thigh
(3)
Skin, Genital area
(3)
Skin, Thorax/abdomen
(3)
Vein, iliac
(3)
Aortic arch
(2)
Gonad, Gonad
(2)
Skin, Foreskin
(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, Testes
(1)
Heart, Pericardium
(1)
Heart, Unspecified
(1)
Lens, Eye
(1)
Ligament, Teeth
(1)
Muscle, Unspecified
(1)
Neuroepithelioma
(1)
Osteosarcoma
(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
(15928)
Male
(14985)
Other
(7)
Race:
White
(19137)
Black/African American
(3222)
More than one race
(833)
Asian
(439)
Other
(294)
Unknown
(217)
Hispanic/Latino
(126)
American Indian/Alaska Native
(63)
East Indian
(42)
Not Reported
(31)
Asiatic Indian
(24)
Native Hawaiian/Other Pacific Islander
(22)
Asian, Other
(20)
Caucasian
(16)
Filipino
(7)
Chinese
(2)
Japanese
(2)
Korean
(2)
dbGap Data Available:
No
(25992)
Yes
(5277)
Extended Clinical Data Available:
No
(15766)
Yes
(15503)
Age at Sampling (Years):
55-64
(3523)
35-44
(3364)
65-74
(3268)
45-54
(3213)
5-14
(3198)
15-24
(2500)
25-34
(2479)
75-89
(2041)
0-4
(1480)
90-99
(49)
100+
(11)
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