GM28280

GM28280 Fibroblast from Skin, Back

Description:

ANGELMAN SYNDROME; AS
UBIQUITIN-PROTEIN LIGASE E3A; UBE3A

Affected:

Yes

Sex:

Male

Age:

10 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Biopsy Source

Back

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Back

Race

White

Ethnicity

Not Hispanic/Latino

Country of Origin

USA

Family History

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" tab. Heterozygous c.1090G>T (p.Glu364X) mutation in the UBE3A gene. Diagnosed by geneticists.

Characterizations

PDL at Freeze

5.23

Passage Frozen

Gene

UBE3A

Chromosomal Location

15q11.2

Allelic Variant 1

; ANGELMAN SYNDROME; AS

Identified Mutation

c.1090G>T (p.Glu364X)

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

10 YR

Sex

Male

Age at Diagnosis(If not a control)

2 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:

UBE3A, C.1090G>T (P.GLU364X), NONSENSE

Zygosity:

Heterozygous

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

AT BIRTH

Age at Diagnosis:

2 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

Treatments and Assistive Devices

Occupational therapy
Physical therapy
Speech therapy
Communication or learning devices

Medications

KEPPRA; ONFI

Family History

Remarks

Clinically affected. See "Phenotypic Data" tab. Heterozygous c.1090G>T (p.Glu364X) mutation in the UBE3A gene. Diagnosed by geneticists.

External Links

Gene Cards

UBE3A

Gene Ontology

GO:0004840 ubiquitin conjugating enzyme activity

GO:0004842 ubiquitin-protein ligase activity

GO:0005622 intracellular

GO:0005634 nucleus

GO:0006508 proteolysis and peptidolysis

GO:0006511 ubiquitin-dependent protein catabolism

GO:0006512 ubiquitin cycle

GO:0007420 brain development

GO:0016874 ligase activity

NCBI Gene

Gene ID:282

Gene ID:7337

NCBI GTR

105830 ANGELMAN SYNDROME; AS

601623 UBIQUITIN-PROTEIN LIGASE E3A; UBE3A

OMIM

105830 ANGELMAN SYNDROME; AS

601623 UBIQUITIN-PROTEIN LIGASE E3A; UBE3A

Omim Description

ANGELMAN SYNDROME CHROMOSOME REGION; ANCR

ANGELMAN SYNDROME; AS

HAPPY PUPPET SYNDROME

Culture Protocols

Cumulative PDL at Freeze

5.23

Passage Frozen

Split Ratio

1:3

Temperature

37 C

Percent CO2

Percent O2

Medium

Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not inactivated

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD

Description:

ANGELMAN SYNDROME; AS UBIQUITIN-PROTEIN LIGASE E3A; UBE3A

Affected:

Yes

Sex:

Male

Age:

10 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

ANGELMAN SYNDROME; AS
UBIQUITIN-PROTEIN LIGASE E3A; UBE3A