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GM27288 LCL from B-Lymphocyte

Description:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25
SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT CITRATE TRANSPORTER), MEMBER 5; SLC13A5

Affected:

Yes

Sex:

Female

Age:

14 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 Italian, German, Welsh
Country of Origin USA
Family Member 1
Family History Y
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks See Phenotypic Data Tab

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene SLC13A5
Chromosomal Location 17p13.1
Allelic Variant 1 608305..0001; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA; EIEE25
Identified Mutation c.655G>A (p.G219R)
 
Gene SLC13A5
Chromosomal Location 17p13.1
Allelic Variant 1 p.LEU492PRO (p.L492P); EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA; EIEE25
Identified Mutation c.1475T>C (p.L492P)

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 14 YR
Sex Female
Age at Diagnosis(If not a control) 10 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 SEQUENCING REVEALED TWO VARIANTS IN THE SLC13A5 GENE IN TRANS CONFIGURATION (COMPOUND HETEROZYGOUS): SLC13A5, C.655G>A (P.G219R), EXON 5, RS144332569; SLC13A5, C.1475T>C (P.L492P), EXON 11, NOVEL VARIANT
Zygosity:  Compound Heterozygous
Notes: TARGETED NEXT-GENERATION SEQUENCING REVEALED THAT THIS INDIVIDUAL IS HETEROZYGOUS FOR A LIKELY PATHOGENIC VARIANT IN THE SLC2A1 GENE
Other variants:  TCTN1, C161+1G>A, INTRONIC, HETEROZYGOUS; WDR81, C.3532G>A (P.A1178T), EXON 1, RS151330612, HETEROZYGOUS; SCARB2, C.445G>A (P.V149M), EXON 4, RS147159813, HETEROZYGOUS; BCKDHA, C.607G>A (P.V203I), EXON 5, NOVEL VARIANT, HETEROZYGOUS; TRAPPC9, C.3443G>A (P.R1148Q), EXON 22, RS111768745, HETEROZYGOUS; MOCS1, C.1822T>C (P.C608R), EXON 10, NOVEL VARIANT, HETEROZYGOUS; CNTNAP2, C.2147A>G (P.Y716C), EXON 14, NOVEL VARIANT, HETEROZYGOUS; SLC17A5, C.820-3C>T, INTRONIC, RS12201641, HETEROZYGOUS; TPK1, C.667G>A (P.G223R), EXON 9, NOVEL VARIANT, HETEROZYGOUS; CACNA1H, C.2057C>T (P.P686L), EXON 10, RS145376050, HETEROZYGOUS
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:  BIRTH
Age at Diagnosis:  10
In Utero History Information
Birth History Information
Dysmorphic Features
Neurological Symptoms
Ataxia
Hypotonia
Seizures
Optical and Audiological Symptoms
Musculoskeletal Symptoms
Scoliosis
Developmental Milestones
Delayed speech and language development
Delayed fine motor skills
Delayed gross motor skills
Gastrointestinal Symptoms
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Intellectual Disability:  Severe
Additional Information
Testing Performed
Treatments and Assistive Devices
Medications
Family History
 PATIENT'S SIBLING (GM27289) ALSO COMPOUND HETEROZYGOUS FOR THESE TWO VARIANTS; MOTHER (GM27290) IS APPARENTLY HEALTHY AND HETEROZYGOUS FOR THE C.1475T>C (P.L492P) VARIANT; FATHER (GM27299) IS APPARENTLY HEALTHY AND HETEROZYGOUS FOR THE C.655G>A (P.G219R) PATHOGENIC VARIANT.

External Links

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Gene Cards SLC13A5
Gene Ontology GO:0005215 transporter activity
GO:0006814 sodium ion transport
GO:0016020 membrane
NCBI Gene Gene ID:284111
NCBI GTR 608305 SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT CITRATE TRANSPORTER), MEMBER 5; SLC13A5
615905 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25, WITH AMELOGENESIS IMPERFECTA; DEE25
OMIM 608305 SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT CITRATE TRANSPORTER), MEMBER 5; SLC13A5
615905 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25, WITH AMELOGENESIS IMPERFECTA; DEE25

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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