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GM23722 LCL from B-Lymphocyte

Description:

TRANSLOCATED CHROMOSOME

Affected:

No Data

Sex:

Female

Age:

2 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
DGAP
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity Not Hispanic/Latino
Family History N
Relation to Proband proband
Confirmation Karyotypic analysis before cell line submission to CCR
ISCN 46,XX,t(17;18)(p13;p11.2).arr 17p13.3(794263-1229753)x3
Species Homo sapiens
Common Name Human
Remarks Rett syndrome-like phenotype with moderate to severe mental retardation; combined motor and language delay; non-verbal; sleep disturbance; constant hand-wringing or hands in mouth; significant underbite; very hypermobile joints; question of gastrointestinal abnormality; abnormal EEG (X2) with left central temporal spike waves and occasional right central temporal spike waves.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 

Phenotypic Data

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Remarks Rett syndrome-like phenotype with moderate to severe mental retardation; combined motor and language delay; non-verbal; sleep disturbance; constant hand-wringing or hands in mouth; significant underbite; very hypermobile joints; question of gastrointestinal abnormality; abnormal EEG (X2) with left central temporal spike waves and occasional right central temporal spike waves.

Publications

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Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013
PubMed ID: 23665875

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
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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