GM07292

GM07292 LCL from B-Lymphocyte

Description:

FRAGILE X MENTAL RETARDATION SYNDROME

Affected:

No

Sex:

Female

Age:

18 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Chromosome Abnormalities

Class

Disorders with Trinucleotide Expansions

Class

X Chromosome Markers

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

Black/African American

Family Member

Relation to Proband

maternal cousin

Confirmation

Molecular characterization after cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Normal IQ; daughter of GM07064A; 46,XX in PBL; normal female by Southern analysis

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

Phenotypic Data

Remarks

Normal IQ; daughter of GM07064A; 46,XX in PBL; normal female by Southern analysis

Publications

Sherman SL, Jacobs PA, Morton NE, Froster-Iskenius U, Howard-Peebles PN, Nielsen KB, Partington MW, Sutherland GR, Turner G, Watson M, Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet69:289-99 1985

PubMed ID: 3838733

External Links

dbSNP

dbSNP ID: 16406

NCBI GTR

300624 FRAGILE X SYNDROME; FXS

OMIM

300624 FRAGILE X SYNDROME; FXS

Omim Description

FRAGILE X MENTAL RETARDATION SYNDROME

Culture Protocols

Split Ratio

1:3

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