NA24206

NA24206 DNA from LCL

Description:

ANGELMAN SYNDROME; AS
UBIQUITIN-PROTEIN LIGASE E3A; UBE3A

Affected:

Yes

Sex:

Male

Age:

5 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Chromosome Abnormalities

Quantity

25 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

DNA from LCL

Race

American Indian/Alaska Native

Ethnicity

Not Hispanic/Latino

Ethnicity

American Indian/Alaskan Native/Caucasian

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

ISCN

47,XY,+9[5]/46,XY[35].arr 15q11.1q11.2(20541967-22588019)x1

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; global developmental delay with limited speech; molecular testing revealed mutation UBE3A of 317C>A;treatments include include: physical, occupational, and speech therapy as well as learning/communications device; medications include Lamotrigine; mother, 2 siblings and multiple maternal relatives also have the mutation; mother is GM24207.