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GM09659 LCL from B-Lymphocyte

Description:

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3

Affected:

No

Sex:

Male

Age:

4 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of the Nervous System
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity ASHKENAZI
Family Member 10
Relation to Proband paternal cousin
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically unaffected; 4 affected paternal cousins include GM05105, GM05106, and GM09790.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks Clinically unaffected; 4 affected paternal cousins include GM05105, GM05106, and GM09790.

Publications

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Frye RE, Rose S, McCullough S, Bennuri SC, Porter-Gill PA, Dweep H, Gill PS, MicroRNA Expression Profiles in Autism Spectrum Disorder: Role for miR-181 in Immunomodulation Journal of personalized medicine11: 2021
PubMed ID: 34575699
 
Rose S, Bennuri SC, Davis JE, Wynne R, Slattery JC, Tippett M, Delhey L, Melnyk S, Kahler SG, MacFabe DF, Frye RE, Butyrate enhances mitochondrial function during oxidative stress in cell lines from boys with autism Translational psychiatry8:42 2017
PubMed ID: 29391397
 
Rose S, Frye RE, Slattery J, Wynne R, Tippett M, Pavliv O, Melnyk S, James SJ, Oxidative stress induces mitochondrial dysfunction in a subset of autism lymphoblastoid cell lines in a well-matched case control cohort PloS one9:e85436 2013
PubMed ID: 24416410

External Links

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dbSNP dbSNP ID: 22797
NCBI GTR 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
OMIM 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
Omim Description DYSAUTONOMIA, FAMILIAL; DYS
  FD
  HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY III
  HSAN-III
  RILEY-DAY SYNDROME

Culture Protocols

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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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