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Repository:
NIGMS Human Genetic Cell Repository
(18327)
NINDS Repository
(4)
NIA Aging Cell Culture Repository
(2)
Collection:
Heritable Diseases
(11130)
Chromosome Abnormalities
(2840)
Human Variation
(1947)
CEPH
(1675)
dbGaP
(1336)
PIGI Consented Sample
(1281)
Old Order Amish Major Affective Disorder
(1009)
Apparently Healthy Collection
(958)
Repository Linkage Families
(816)
Lysosomal Storage Diseases
(753)
Hybrids
(586)
Muscular Dystrophies
(544)
GeT-RM Samples
(512)
Hereditary Cancers
(385)
Pharmacogenetics
(334)
CMD Specific
(268)
Venezuelan Huntington Disease
(251)
Disorders of the Urea Cycle
(225)
Maturity-Onset Diabetes of the Young
(222)
Retinitis Pigmentosa Foundation Collection
(195)
FOXG1
(90)
Animals
(76)
DGAP
(72)
Whole-Genome Sequence
(53)
Apparently healthy iPSCs
(24)
Engineered Cell Cultures
(15)
Gene-Edited hiPSC
(12)
Parkinsonism
(4)
Control
(2)
Prostate Cancer
(1)
Product:
DNA
(6073)
LCL
(7977)
Fibroblast
(3517)
Somatic cell hybrid
(322)
iPSC
(142)
Amniotic fluid-derived cell line
(57)
CEPH family kit
(52)
human variation panel
(44)
High Molecular Weight DNA
(42)
hybrid regional mapping panel
(20)
Melanocyte
(17)
Keratinocyte
(13)
Tumor-derived cell line
(11)
Hybridoma
(7)
Myeloma
(7)
DNA sample pool
(6)
Chorionic villus-derived cell line
(4)
gene mutation panel
(4)
Endothelial
(3)
Smooth muscle
(3)
hybrid mapping panel
(3)
96 well plate of DNA samples
(2)
Erythroleukemic cell line
(2)
Cytoplasmic transfer (cybrid)
(1)
FFPE
(1)
Kidney-derived cell line
(1)
Microcell hybrid
(1)
Affected:
Yes
(7776)
No
(5117)
Unknown
(235)
At Risk
(55)
Mutation Data Available:
N
(13826)
Y
(4376)
No
(131)
Source:
B-Lymphocyte
(8020)
LCL
(4752)
Fibroblast
(1151)
Skin, Unspecified
(458)
Somatic cell hybrid
(252)
Skin, Arm
(178)
Skin, Skin
(162)
Amniotic fluid
(56)
Skin, Foreskin
(53)
Skin, Thigh
(36)
Lung, Lung
(29)
Blood
(24)
Amniotic fluid-derived cell line
(19)
Skin, Posterior iliac crest
(12)
Fetal, Unspecified
(11)
Gonad, Gonad
(9)
Skin, Back
(8)
Skin, Inguinal area
(8)
Whole embryo, Embryo
(8)
Gonad, Ovary
(7)
Muscle, Unspecified
(6)
Skin, Buttock
(6)
Skin, Leg
(6)
Conjunctiva, Conjunctiva
(5)
Liver, Liver
(5)
Placental, Placenta
(5)
Skin, Abdomen
(5)
Skin, Fetal
(5)
Chorionic villus
(4)
Skin, Hip
(4)
Umbilical Cord, Umbilical cord
(4)
Aorta, thoracic
(3)
Chorionic villus-derived cell line
(3)
Gonad, Testes
(3)
Kidney, Kidney
(3)
Leiomyoma
(3)
Skin, Buttock-thigh
(3)
Skin, Genital area
(3)
Stem cell
(3)
Tumor-derived cell line
(3)
Amnion, Amnion
(2)
Bladder carcinoma
(2)
Heart, Pericardium
(2)
Skin, Ear
(2)
Skin, Labialscrotal fold
(2)
Skin, Umbilical area
(2)
Smooth muscle
(2)
Spleen, Keloid
(2)
T-Lymphocyte
(2)
Tendon, Achilles tendon
(2)
Tumor
(2)
Tumor, Fibroma
(2)
Umbilical Cord, Vein, umbilical
(2)
Whole Blood
(2)
Adrenal cortex tumor
(1)
Brain, Brain
(1)
Brain, Unspecified
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
(1)
Chest
(1)
Cornea, Cornea
(1)
Ewing sarcoma
(1)
Fetal, Arm
(1)
Gingival, Gum
(1)
Heart, Unspecified
(1)
Hydatidiform mole
(1)
Kidney
(1)
Lens, Eye
(1)
Ligament, Teeth
(1)
Neuroepithelioma
(1)
Osteosarcoma
(1)
Peripheral Vein
(1)
Polyp, Nasal
(1)
Skin, Axilla
(1)
Skin, Calf
(1)
Skin, Chest
(1)
Skin, Embryo
(1)
Skin, Flank
(1)
Skin, Neck
(1)
Skin, Shoulder
(1)
Skin, Thorax
(1)
Skin, Thorax/abdomen
(1)
Tumor, Abdomen
(1)
Tumor, Adenoma
(1)
Tumor, Hepatoblastoma
(1)
Tumor, Neurofibroma
(1)
Uterine muscle, Uterus
(1)
Sex:
Female
(9065)
Male
(8464)
Other
(23)
Race:
White
(11981)
Black/African American
(1004)
Hispanic/Latino
(321)
Asiatic Indian
(247)
Asian
(224)
Chinese
(218)
More than one race
(85)
Other
(83)
East Indian
(62)
Not Reported
(39)
Unknown
(32)
Asian, Other
(29)
American Indian/Alaska Native
(28)
Filipino
(10)
Korean
(6)
Japanese
(3)
Vietnamese
(3)
dbGap Data Available:
No
(18270)
Yes
(63)
Extended Clinical Data Available:
No
(17732)
Yes
(601)
Age at Sampling (Years):
25-34
(2483)
0-4
(2376)
15-24
(2358)
35-44
(2085)
5-14
(2076)
45-54
(1434)
55-64
(948)
65-74
(490)
75-89
(232)
90-99
(20)
100+
(2)
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