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GM28873 LCL from B-Lymphocyte

Description:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5
SYNAPTIC RAS-GTPASE-ACTIVATING PROTEIN 1; SYNGAP1

Affected:

Yes

Sex:

Female

Age:

5 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race More than one race
Subject Type parent/child discordant pair
Ethnicity Hispanic/Latino
Ethnicity Race: Black/African American & White; Ancestry: Haitian, Puerto Rican
Country of Origin USA
Family Member 1
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected. See Phenotypic Data; heterozygous mutation in the SYNGAP1 gene c.2059C>T (p.Arg687X); unaffected mother is GM28562.

Characterizations

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Gene SYNGAP1
Chromosomal Location 6p21.32
Allelic Variant 1 p.Arg687*; Mental Retardation, Autosomal Dominant 5; MRD5
Identified Mutation c.2059C>T (p.Arg687*)

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 5 YR
Sex Female
Age of Onset(If not a control) 6 MO
Age at Diagnosis(If not a control) 3 YR
Hispanic or Latino/Not Hispanic or Latino Hispanic/Latino
Racial Category More than one race
Country USA
 
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
  (Baseline)
Mutation Information
Gene, variant, consequence, and exon number:  C.2059C>T ON EXON 12 IS PATHOGENIC AND CREATES A PREMATURE TRANSLATIONAL STOP SIGNAL (P.ARG687*) IN THE SYNGAP1 GENE
Zygosity:  Heterozygous
Other variants:  EHMT1, INTRON 22, C.3259-9T>G IS INTRONIC, HETEROZYGOUS AND OF UNCERTAIN SIGNIFICANCE. PCDH19, ON EXON 1, C.667G>C (P.GLY223ARG) IS HETEROZYGOUS AND OF UNCERTAIN SIGNIFICANCE. IT REPLACES GLYCINE WITH ARGININE AT CODON 223.
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:  6 MONTHS
Age at Diagnosis:  3 YEARS
In Utero History Information
Birth History Information
Dysmorphic Features
Neurological Symptoms
Optical and Audiological Symptoms
Musculoskeletal Symptoms
Developmental Milestones
Gastrointestinal Symptoms
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Additional Information
Testing Performed
Respiratory and Cardiovascular Testing:  EEG
Treatments and Assistive Devices
Communication or learning devices
Medications
 LAMOTRIGINE, CLONAZEPAM, AND EPIDIOLEX
Family History
Remarks Clinically affected. See Phenotypic Data; heterozygous mutation in the SYNGAP1 gene c.2059C>T (p.Arg687X); unaffected mother is GM28562.

External Links

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Gene Cards SYNGAP1
Gene Ontology GO:0005096 GTPase activator activity
NCBI Gene Gene ID:8831
NCBI GTR 603384 SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN 1; SYNGAP1
612621 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5
OMIM 603384 SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN 1; SYNGAP1
612621 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5

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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