GM11273

GM11273 Fibroblast

Description:

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

Affected:

Yes

Sex:

Female

Age:

11 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of the Nervous System

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Ethnicity

JEWISH

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; classical symptoms; normal lysosomal enzymes; 46,XX in PBL; donor subject carries a missense mutation, 316C>T, in the gene encoding methyl-CpG binding protein 2 (MECP2).

Characterizations

PDL at Freeze

8.56

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

Gene

MECP2

Chromosomal Location

Xq28

Allelic Variant 1

; RETT SYNDROME

Identified Mutation

316C>T

Phenotypic Data

Remarks

Clinically affected; classical symptoms; normal lysosomal enzymes; 46,XX in PBL; donor subject carries a missense mutation, 316C>T, in the gene encoding methyl-CpG binding protein 2 (MECP2).

Publications

Chen X, Han X, Blanchi B, Guan W, Ge W, Yu YC, Sun YE, Graded and pan-neural disease phenotypes of Rett Syndrome linked with dosage of functional MeCP2 Protein & cell: 2020

PubMed ID: 32851591

Carvalho CM, Camargos W, Pena SD, Multiplex protocol suitable for screening for MECP2 mutations in girls with mental retardation Clinical chemistry52:539-40 2006

PubMed ID: 16510438

Traynor J, Agarwal P, Lazzeroni L, Francke U, Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations. BMC Med Genet3(1):12 2002

PubMed ID: 12418965

Sung Jae Lee S, Wan M, Francke U, Spectrum of MECP2 mutations in Rett syndrome. Brain Dev23 Suppl 1:S138-43 2001

PubMed ID: 11738860