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GM27901 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Female

Age:

3 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 White
Ethnicity Not Hispanic/Latino
Ethnicity Norwegian, Irish, English, Scottish
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 See Phenotypic Data tab. Same subject as GM27957 (iPSC).

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene SYNGAP1
Chromosomal Location 6p21.32
Allelic Variant 1 p.R1240X; MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5
Identified Mutation c.3718C>T (p.R1240X)

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 3 YR
Sex Female
Age of Onset(If not a control) 8 MO
Age at Diagnosis(If not a control) 3 YR
Hispanic or Latino/Not Hispanic or Latino Not Hispanic/Latino
Racial Category White
Country USA
 
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
  (Baseline)
Mutation Information
Gene, variant, consequence, and exon number:  WHOLE EXOME TRIO SEQUENCING REVEALED A DE NOVO MUTATION IN THE SYNGAP1 GENE (NM_006772.2): C.3718 C>T IN EXON 17 (P.R1240X); CHR6:33,414,461-33,459,293 44,833 BP; GRCH38/HG 38
Zygosity:  Heterozygous
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:  8 MONTHS
Age at Diagnosis:  3 YEARS
In Utero History Information
Birth History Information
Dysmorphic Features
Strabismus
Additional Information:  STRABISMUS IN BOTH EYES CORRECTED THROUGH SURGERY
Neurological Symptoms
Seizures
Additional Information:  LOW MUSCLE TONE; SUBCLINICAL AND MYOCLONIC SEIZURES; STEREOTYPY
Optical and Audiological Symptoms
Additional Information:  EAR TUBES
Musculoskeletal Symptoms
Developmental Milestones
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
Additional Information:  APRAXIA; TROUBLE SPEAKING
Gastrointestinal Symptoms
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Additional Information:  INTELLECTUAL DISABILITY
Additional Information
Testing Performed
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
Medications
 KEPPRA
Family History
 BOTH PARENTS (NOT IN REPOSITORY) ARE NEGATIVE FOR THE PATHOGENIC VARIANT IN SYNGAP1; THE POSSIBILITY OF GERMLINE MOSAICISM SHOULD BE CONSIDERED.
Remarks See Phenotypic Data tab. Same subject as GM27957 (iPSC).

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 1:3
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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How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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