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GM06865 LCL from B-Lymphocyte

Description:

FRAGILE X MENTAL RETARDATION SYNDROME

Affected:

No

Sex:

Male

Age:

9 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
Chromosome Abnormalities
Class Disorders with Trinucleotide Expansions
Class X Chromosome Markers
Alternate IDs GM17104 [FRAGILE X MENTAL RETARDATION SYNDROME]
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race Black/African American
Family Member 5
Relation to Proband maternal cousin
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Normal functioning and development; 1 affected brother; 4 affected cousins; son of GM06863B; negative for fra(X) in PBL; normal male by Southern analysis

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 Normal functioning and development; 1 affected brother; 4 affected cousins; son of GM06863B; negative for fra(X) in PBL; normal male by Southern analysis

Publications

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Dolskiy AA, Yarushkin AA, Grishchenko IV, Lemskaya NA, Pindyurin AV, Boldyreva LV, Pustylnyak VO, Yudkin DV, miRNA expression and interaction with the 3'UTR of FMR1 in FRAXopathy pathogenesis Non-coding RNA research6:1-7 2020
PubMed ID: 33426406
 
Kumari D, Sciascia N, Usdin K, Small Molecules Targeting H3K9 Methylation Prevent Silencing of Reactivated Genes11:1-7 2020
PubMed ID: 32230785
 
Nakayama Y, Adachi K, Shioda N, Maeta S, Nanba E, Kugoh H, Establishment of FXS-A9 panel with a single human X chromosome from fragile X syndrome-associated individual Experimental cell research398:112419 2020
PubMed ID: 33296661
 
Greene E, Mahishi L, Entezam A, Kumari D, Usdin K, Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia Nucleic acids research35:3383-90 2007
PubMed ID: 17478498
 
Sherman SL, Jacobs PA, Morton NE, Froster-Iskenius U, Howard-Peebles PN, Nielsen KB, Partington MW, Sutherland GR, Turner G, Watson M, Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet69:289-99 1985
PubMed ID: 3838733

External Links

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dbSNP dbSNP ID: 10900
NCBI GTR 300624 FRAGILE X SYNDROME; FXS
OMIM 300624 FRAGILE X SYNDROME; FXS
Omim Description FRAGILE X MENTAL RETARDATION SYNDROME

Culture Protocols

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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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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