GM23301

GM23301 LCL from B-Lymphocyte

Description:

CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME
DUPLICATED CHROMOSOME

Affected:

Yes

Sex:

Female

Age:

3 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Chromosome Abnormalities
Heritable Diseases

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

Hispanic/Latino

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

ISCN

46,XX.arr[hg19] 15q11.2q13.1(22673386-29009042)x3

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; autism; speech delay; round face; long palpebral fissures; short nose; wide nasal bridge; anteverted nares; long philtrum; thin upper lip; full cheeks; wide mouth; nasal labial folds asymmetry; relax facial muscles; hypotonia; hemiparesis; variant EEG (excessive diffuse 18-22 Hz beta spikes in the waking record); 5.1 mb de novo 15q interstitial duplication of maternal origin; refer to patient 801-017 as described by Urraca et al PMID: 23495136.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Phenotypic Data

Remarks

Publications

Urraca N, Cleary J, Brewer V, Pivnick EK, McVicar K, Thibert RL, Schanen NC, Esmer C, Lamport D, Reiter LT, The interstitial duplication 15q112-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature Autism research : official journal of the International Society for Autism Research6:268-79 2012

PubMed ID: 23495136

External Links

NCBI GTR

608636 CHROMOSOME 15q11-q13 DUPLICATION SYNDROME

OMIM

608636 CHROMOSOME 15q11-q13 DUPLICATION SYNDROME

Omim Description

AUTISM SUSCEPTIBILITY TO 4; AUTS4

Culture Protocols

Split Ratio

1:4

Temperature

37 C

Percent CO2

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

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD