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Samples (116)
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LCL (46)
Fibroblast (41)
DNA (28)
96 well plate of DNA samples (1)

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B-Lymphocyte (46)
LCL (20)
Whole Blood (5)
Fibroblast (3)
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NIGMS Human Genetic Cell Repository (92)
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Heritable Diseases (88)
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Description

Product

Source

(Showing Items: 50)

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GM00577

GLYCOGEN STORAGE DISEASE V

Fibroblast

View

GM01759

MUCOLIPIDOSIS IIIA | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB

Fibroblast

View

GM26651

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 | MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7

LCL

B-Lymphocyte

View

GM26652

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 | MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7

Fibroblast

View

GM03685

MUCOLIPIDOSIS IIIA | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB

Fibroblast

View

NA17376

HUMAN VARIATION PANEL - GREEK

DNA

LCL

View

GM17376

HUMAN VARIATION PANEL - GREEK

LCL

B-Lymphocyte

View

ND11320

AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1

DNA

LCL

View

NA07291

ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD | ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT 2,8-@DIHYDROXYADENINE UROLITHIASIS, INCLUDED

DNA

LCL

View

GM10211

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1 | HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A

LCL

B-Lymphocyte

View

NA00577

GLYCOGEN STORAGE DISEASE V

DNA

Fibroblast

View

GM01494

MUCOLIPIDOSIS IIIA | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB

Fibroblast

View

GM23772

GLYCOGEN STORAGE DISEASE V

LCL

B-Lymphocyte

View

HG03127

ESAN IN NIGERIA

DNA

LCL

View

GM10807

ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD | ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT 2,8-@DIHYDROXYADENINE UROLITHIASIS, INCLUDED

LCL

B-Lymphocyte

View

GM10808

ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD | ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT 2,8-@DIHYDROXYADENINE UROLITHIASIS, INCLUDED

LCL

B-Lymphocyte

View

GM10809

ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD | ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT 2,8-@DIHYDROXYADENINE UROLITHIASIS, INCLUDED

LCL

B-Lymphocyte

View

GM10811

ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD | ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT 2,8-@DIHYDROXYADENINE UROLITHIASIS, INCLUDED

LCL

B-Lymphocyte

View

GM10812

ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD | ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT 2,8-@DIHYDROXYADENINE UROLITHIASIS, INCLUDED

LCL

B-Lymphocyte

View

GM10816

ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD | ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT 2,8-@DIHYDROXYADENINE UROLITHIASIS, INCLUDED

LCL

B-Lymphocyte

View

GM10818

ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD | ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT 2,8-@DIHYDROXYADENINE UROLITHIASIS, INCLUDED

LCL

B-Lymphocyte

View

NA17134

HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 | HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 (VERSION 2) | HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 16 | HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 24

DNA

LCL

View

ND03544

INTRACRANIAL ANEURYSM - UNRUPTURED

LCL

B-Lymphocyte

View

GM22600

INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD | VALOSIN-CONTAINING PROTEIN; VCP

Fibroblast

Skin, Thigh

View

ND08517

INTRACRANIAL ANEURYSM - UNRUPTURED

LCL

B-Lymphocyte

View

ND08517

INTRACRANIAL ANEURYSM - UNRUPTURED

DNA

LCL

View

ND12600

AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 | ALS PANEL; UPPER-LIMB ONSET; DEFINITE AND PROBABLE | ALS PANEL; UPPER-LIMB ONSET; DEFINITE AND PROBABLE ALS

LCL

B-Lymphocyte

View

ND01524

PARKINSON DISEASE | PARKINSONS PANEL: CAUCASIAN FROM THE UNITED STATES | PARKINSON'S PANEL: CAUCASIAN FROM THE UNITED STATES | PD

DNA

LCL

View

ND01820

INTRACRANIAL ANEURYSM - UNRUPTURED

LCL

B-Lymphocyte

View

ND04190

POPULATION/CONVENIENCE CONTROL | CONTROL PANEL FOR YOUNG ONSET PARKINSON'S; UNAFFECTED INDIVIDUALS | CUSTOM PLATE FOR REYNA FAVIS CONSISTING OF POPULATION CONTROL SAMPLES | NEUROLOGICALLY NORMAL CAUCASIAN CONTROL PANEL

LCL

B-Lymphocyte

View

GM02600

46,XY SEX REVERSAL 1; SRXY1

Fibroblast

View

ND12600

AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 | ALS PANEL; UPPER-LIMB ONSET; DEFINITE AND PROBABLE | ALS PANEL; UPPER-LIMB ONSET; DEFINITE AND PROBABLE ALS

DNA

LCL

View

GM21434

MAASAI IN KINYAWA, KENYA

LCL

B-Lymphocyte

View

GM23692

GLYCOGEN STORAGE DISEASE V

LCL

B-Lymphocyte

View

HG02600

PUNJABI IN LAHORE, PAKISTAN

LCL

B-Lymphocyte

View

ND40102

SEGMENTAL DYSTONIA

DNA

Whole Blood

View

NA02558

MUCOLIPIDOSIS IIIA | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB

DNA

Fibroblast

View

GM23260

INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD

LCL

B-Lymphocyte

View

HG02600

PUNJABI IN LAHORE, PAKISTAN

DNA

LCL

View

GM03823