Description:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25
SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT CITRATE TRANSPORTER), MEMBER 5; SLC13A5
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| Protocols |
Protocol PDF |
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Biopsy Source
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Blood
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Cell Type
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Stem cell
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Cell Subtype
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Induced pluripotent stem cell
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Transformant
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Reprogrammed (Sendai)
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Sample Source
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iPSC from Blood
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Italian, German, Welsh
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Country of Origin
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USA
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Family Member
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1
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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ISCN
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46,XX[20]
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
16 |
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| Induced Pluripotent Stem Cell |
The frozen cell line submitted to the Repository was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis. |
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| 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) |
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| 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) |
| 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 |
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| 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 |
| Other variants: |
CTN1, 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 |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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Ataxia
Hypotonia
Seizures
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| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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Scoliosis
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| Developmental Milestones |
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Delayed speech and language development
Delayed fine motor skills
Delayed gross motor skills
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information: |
SEVERE |
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
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| Medications |
| Family History |
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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. |
| Remarks |
Reprogrammed from parental line GM27288 (PBMC). Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |
| Passage Frozen |
16 |
| Split Ratio |
1:8 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
0% none |
| Substrate |
Matrigel |
| Supplement |
- |
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