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Samples (90266)
Website Content (1595)

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DNA (57771)
LCL (26022)
Fibroblast (4848)
Somatic cell hybrid (320)
iPSC (312)
Plasmid (171)
mESC (103)
High Molecular Weight DNA (96)
human variation panel (69)
96 well plate of DNA samples (62)
Smooth muscle (61)
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CEPH family kit (52)
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hybrid regional mapping panel (20)
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aging mapping panel (11)
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gene mutation panel (4)
hybrid mapping panel (3)
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Whole Blood (31163)
B-Lymphocyte (26384)
LCL (22833)
Fibroblast (1672)
Skin, Arm (1074)
Skin, Unspecified (500)
Somatic cell hybrid (250)
Skin, Skin (235)
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Lung, Lung (105)
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Amniotic fluid-derived cell line (23)
Brain striatum (13)
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Skin, Leg (12)
Skin, Posterior iliac crest (12)
Trachealis muscle (12)
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Breast organoid (6)
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NINDS Repository (54002)
NIGMS Human Genetic Cell Repository (18665)
NHGRI Sample Repository for Human Genetic Research (7509)
NIA Aging Cell Culture Repository (4436)
AREDS (2930)
AREDS2 (1988)
Autism (362)
HD Community Biorepository (207)
Allen Cell Collection (68)
NIAID - USIDnet (53)
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Orphan Disease Center (15)
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Custom Services (1)
Human Reference Genetic Material Repository (1)

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Other (26)

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White (60048)
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More than one race (1691)
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Other (1074)
Unknown (794)
Hispanic/Latino (391)
Caucasian (326)
American Indian/Alaska Native (297)
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Chinese (218)
Native Hawaiian/Other Pacific Islander (103)
Not Reported (77)
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Filipino (10)
Korean (7)
Japanese (3)
Vietnamese (3)

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Yes (47867)
No (19083)
At Risk (6128)
Unknown (3184)

Mutation Data Available:

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N (83840)
Y (6197)
No (229)

Age at Sampling (Years):

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0-4 (3840)
5-14 (5986)
15-24 (5543)
25-34 (6769)
35-44 (9143)
45-54 (11478)
55-64 (12579)
65-74 (10926)
75-89 (6660)
90-99 (757)
100+ (244)

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Cerebrovascular Disease (14020)
Heritable Diseases (11923)
Control (10711)
Parkinsonism (9378)
Epilepsy (7716)
NHGRI Sample Repository for Human Genetic Research (7509)
Motor Neuron Disease (5561)
Tourette Syndrome (4385)
Dystonia (4070)
Chromosome Abnormalities (2968)
Human Variation (1945)
Apparently Healthy Collection (1749)
CEPH (1672)
PIGI Consented Sample (1406)
dbGaP (1335)
Old Order Amish Major Affective Disorder (1009)
University of Georgia Centenarian Study (859)
GRC (826)
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Lysosomal Storage Diseases (801)
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The 90+ Study (331)
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CMD Specific (290)
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"Intra-abdominal fat and risk of disease in children and adolescents" study (260)
Alzheimer's Disease (253)
Venezuelan Huntington Disease (251)
Disorders of the Urea Cycle (230)
Canadian Alzheimer Disease (227)
Maturity-Onset Diabetes of the Young (222)
Retinitis Pigmentosa Foundation Collection (195)
Italian Alzheimer Disease (122)
Nonhuman Primates (115)
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FOXG1 (93)
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Cardiomyopathy (6)
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Johns Hopkins University (2)
Additional PSP subjects (others grouped with Parkinsonism) (1)
Laminopathy (1)
Skeletal Myopathy (1)

dbGap Data Available:

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Yes (16223)

Extended Clinical Data Available:

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No (35453)

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Description

Product

Source

(Showing Items: 50)

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GM12123

ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA | AAAS GENE; AAAS

Fibroblast

Muscle, Unspecified

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AICS-0054-091

mTagRFP-T LOCALIZED TO PLASMA MEMBRANE BY C-TERM K-RAS CVIM DOMAIN EXPRESSED FROM ONE ALLELE OF THE AAVS1 LOCUS UNDER THE CONTROL OF THE CAGGS PROMOTER IN THE WTC iPSC LINE

iPSC

Stem cell

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AICS-0036-028

CYTOPLASMIC mEGFP EXPRESSED FROM ONE ALLELE OF THE AAVS1 LOCUS IN THE WTC iPSC LINE

iPSC

Stem cell

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AICS-0036-006

CYTOPLASMIC mEGFP EXPRESSED FROM ONE ALLELE OF THE AAVS1 LOCUS IN THE WTC iPSC LINE

iPSC

Stem cell

View

NA04994

PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE | ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6

DNA

Fibroblast

View

GM04994

PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE | ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6

Fibroblast

View

GM17819

ADRENOLEUKODYSTROPHY; ALD | ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1

Fibroblast

Skin, Arm

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NA17819

ADRENOLEUKODYSTROPHY; ALD | ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1

DNA

Fibroblast

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NA17476

ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY | ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD8

DNA

Fibroblast

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GM17476

ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY | ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD8

Fibroblast

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GM23919

ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD

LCL

B-Lymphocyte

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GM23495