GM23497

GM23497 LCL from B-Lymphocyte

Description:

RETT SYNDROME; RTT
METHYL-CPG-BINDING PROTEIN 2; MECP2

Affected:

Yes

Sex:

Female

Age:

8 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

Not Hispanic/Latino

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; donor subject carries a 44 bp deletion at nucleotide 1157 (1157_1200del44)of the gene encoding methyl-CpG binding protein 2 (MECP2)

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

MECP2

Chromosomal Location

Xq28

Allelic Variant 1

; RETT SYNDROME

Identified Mutation

1157_1200del44

Phenotypic Data

Remarks

Clinically affected; donor subject carries a 44 bp deletion at nucleotide 1157 (1157_1200del44)of the gene encoding methyl-CpG binding protein 2 (MECP2)