GM28920

GM28920 iPSC from Blood

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

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Protocols

Protocol PDF

Biopsy Source

Blood

Cell Type

Stem cell

Cell Subtype

Induced pluripotent stem cell

Transformant

Reprogrammed (Sendai)

Sample Source

iPSC from Blood

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

Italian, German, Welsh

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

ISCN

46,XX[20]

Species

Homo sapiens

Common Name

Human

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.

Characterizations

Passage Frozen

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.

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

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

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:

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

Additional Information:

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.

Remarks