GM19974

GM19974 LCL from B-Lymphocyte

Description:

SOTOS SYNDROME

Affected:

No

Sex:

Male

Age:

56 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of the Nervous System

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Family Member

Relation to Proband

father

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically unaffected; father of GM19978; negative for NSD1 mutations.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Phenotypic Data

Remarks

Clinically unaffected; father of GM19978; negative for NSD1 mutations.

Publications

Deevy O, Li J, Monger C, Matrà F, Tuck E, Davies M, Badonyi M, Boyce M, Doyle EJ, Hokamp K, Nimmo D, Rodighiero S, Zhang Q, Davidovich C, Marsh JA, Pasini D, Conway E, Bracken AP, Dominant-negative effects of Weaver syndrome-associated EZH2 variants Genes & development39:1355-1376 2025

PubMed ID: 40846643

External Links

NCBI GTR

117550 SOTOS SYNDROME 1; SOTOS1

OMIM

117550 SOTOS SYNDROME 1; SOTOS1

Omim Description

CEREBRAL GIGANTISM

SOTOS SYNDROME

Culture Protocols

Split Ratio

1:4

Temperature

37 C

Percent CO2

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

International/Commercial/For-profit:

$373.00USD

U.S. Academic/Non-profit/Government:

$216.00USD