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Search Results for -
SEVERE HEXOSAMINIDASE A DEFICIENCY
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B VARIANT GM2-GANGLIOSIDOSIS
GM>2< GANGLIOSIDOSIS, TYPE 1
GM2-GANGLIOSIDOSIS, TYPE I
HEXA DEFICIENCY
HEXOSAMINIDASE A DEFICIENCY
TAY-SACHS DISEASE
TSD
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Repository:
NIGMS Human Genetic Cell Repository
(7626)
NINDS Repository
(4699)
NIA Aging Cell Culture Repository
(2346)
HD Community Biorepository
(140)
NHGRI Sample Repository for Human Genetic Research
(65)
Centers for Disease Control and Prevention Repository
(24)
Orphan Disease Center
(6)
Autism
(4)
Allen Cell Collection
(3)
Collection:
Heritable Diseases
(6354)
Cerebrovascular Disease
(1975)
Parkinsonism
(1083)
Apparently Healthy Collection
(807)
Chromosome Abnormalities
(799)
GRC
(784)
PIGI Consented Sample
(758)
Lysosomal Storage Diseases
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Epilepsy
(571)
Human Variation
(418)
Motor Neuron Disease
(396)
Hybrids
(370)
Muscular Dystrophies
(365)
Tourette Syndrome
(347)
GeT-RM Samples
(329)
Hereditary Cancers
(286)
Control
(262)
Disorders of the Urea Cycle
(223)
dbGaP
(217)
Canadian Alzheimer Disease
(208)
Animals
(201)
Venezuelan Huntington Disease
(193)
Dystonia
(191)
Alzheimer's Disease
(184)
CMD Specific
(165)
University of Georgia Centenarian Study
(142)
Retinitis Pigmentosa Foundation Collection
(137)
Pharmacogenetics
(130)
CEPH
(106)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(98)
Old Order Amish Major Affective Disorder
(91)
German Alzheimer Disease
(87)
Italian Alzheimer Disease
(68)
NHGRI Sample Repository for Human Genetic Research
(65)
Whole-Genome Sequence
(53)
Repository Linkage Families
(48)
Aged Sib Pairs
(47)
Ames Dwarf Mice
(47)
FOXG1
(44)
Alzheimer Disease With No Family History
(31)
Maturity-Onset Diabetes of the Young
(31)
Apparently healthy iPSCs
(26)
DGAP
(17)
Nonhuman Primates
(16)
Gene-Edited hiPSC
(12)
Engineered Cell Cultures
(11)
Specially Characterized Fibroblasts
(11)
Non-Healing Wound Collection
(10)
Frontotemporal Degeneration
(2)
Product:
DNA
(6036)
LCL
(5350)
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(2819)
Somatic cell hybrid
(229)
iPSC
(178)
Plasmid
(117)
Endothelial
(34)
High Molecular Weight DNA
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Smooth muscle
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Amniotic fluid-derived cell line
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Epithelial
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Protein
(4)
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(2)
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(2)
Mesothelial
(2)
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(1)
Erythroleukemic cell line
(1)
FFPE
(1)
Hybridoma
(1)
Melanocyte
(1)
Microcell hybrid
(1)
Myeloma
(1)
Affected:
Yes
(7780)
No
(3322)
At Risk
(1731)
Unknown
(175)
Mutation Data Available:
N
(10487)
Y
(4426)
Source:
B-Lymphocyte
(5383)
LCL
(3336)
Whole Blood
(1717)
Fibroblast
(956)
Skin, Arm
(946)
Skin, Unspecified
(307)
Skin, Skin
(148)
Somatic cell hybrid
(141)
Lung, Lung
(65)
Skin, Ear
(58)
Skin, Thigh
(37)
Blood
(30)
Aorta, thoracic
(27)
Amniotic fluid
(17)
Skin, Abdomen
(14)
Brain striatum
(13)
Trachealis muscle
(12)
Amniotic fluid-derived cell line
(11)
Vein, iliac
(11)
Artery, iliac
(8)
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(8)
Skin, Buttock
(7)
Skin, Sacrum
(7)
Breast organoid
(6)
Stem cell
(6)
Epithelial
(5)
Muscle, Unspecified
(5)
Skin, Foreskin
(5)
Embryonal carcinoma
(4)
Eye
(4)
Retina of eye
(4)
Skin, Back
(4)
Skin, Leg
(4)
Skin, Thorax/abdomen
(4)
Umbilical Cord, Umbilical cord
(4)
Fetal, Unspecified
(3)
Gonad, Gonad
(3)
Gonad, Ovary
(3)
Liver, Liver
(3)
Skin, Fetal
(3)
Skin, Genital area
(3)
Skin, Right ischium
(3)
Skin, Thorax
(3)
Artery, pulmonary
(2)
Bladder carcinoma
(2)
Chorionic villus
(2)
Chorionic villus-derived cell line
(2)
Endometrial, Uterus
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Heart, Pericardium
(2)
Kidney
(2)
Lung
(2)
Placental, Placenta
(2)
Skin, Hip
(2)
Spleen, Keloid
(2)
Tumor-derived cell line
(2)
Whole embryo, Embryo
(2)
Adenocarcinoma
(1)
Adrenal cortex tumor
(1)
Aorta, abdominal
(1)
Artery, Aorta, thoracic
(1)
Ascites fluid, Ascites fluid
(1)
Brain, Brain
(1)
Brain, Unspecified
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
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Endothelial
(1)
Fetal, Arm
(1)
Gingival, Gum
(1)
Gonad, Testes
(1)
Peripheral Vein
(1)
Skin, Breast
(1)
Skin, Calf
(1)
Skin, Chest
(1)
Skin, Flank
(1)
Skin, Foot
(1)
Skin, Labialscrotal fold
(1)
Skin, Posterior iliac crest
(1)
Skin, Scalp
(1)
Skin, Thoraco-lumbar junction
(1)
Skin, Toe
(1)
Smooth muscle
(1)
Tendon, Achilles tendon
(1)
Tendon, Leg
(1)
Tumor
(1)
Tumor, Abdomen
(1)
Tumor, Adenoma
(1)
Tumor, Fibroma
(1)
Tumor, Hepatoblastoma
(1)
Vein, umbilical
(1)
Sex:
Female
(7427)
Male
(6887)
Other
(3)
Race:
White
(10994)
Black/African American
(703)
Asian
(246)
Asiatic Indian
(223)
More than one race
(212)
Other
(175)
Unknown
(115)
Hispanic/Latino
(62)
East Indian
(49)
Not Reported
(37)
American Indian/Alaska Native
(36)
Asian, Other
(20)
Native Hawaiian/Other Pacific Islander
(16)
Chinese
(10)
Caucasian
(8)
Filipino
(7)
Japanese
(3)
Korean
(2)
dbGap Data Available:
No
(14470)
Yes
(443)
Extended Clinical Data Available:
No
(9793)
Yes
(5120)
Age at Sampling (Years):
45-54
(1949)
35-44
(1885)
5-14
(1729)
55-64
(1678)
15-24
(1496)
25-34
(1485)
0-4
(1478)
65-74
(998)
75-89
(648)
90-99
(102)
100+
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