GM25365

GM25365 LCL from B-Lymphocyte

Description:

SMITH-MAGENIS SYNDROME; SMS

Affected:

No

Sex:

Male

Age:

No Data

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Chromosome Abnormalities

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Country of Origin

USA

Family Member

Family History

Relation to Proband

father

Confirmation

Karyotypic analysis after cell line submission to CCR

ISCN

46,XY.arr[hg19](1-22)x2,(XY)x1

Species

Homo sapiens

Common Name

Human

Remarks

Unaffected father of affected child (GM25363); unaffected mother of child is GM25364.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Phenotypic Data

Remarks

Unaffected father of affected child (GM25363); unaffected mother of child is GM25364.

External Links

Gene Cards

RAI

NCBI GTR

182290 SMITH-MAGENIS SYNDROME; SMS

OMIM

182290 SMITH-MAGENIS SYNDROME; SMS

Omim Description

SMITH-MAGENIS CHROMOSOME REGION; SMCR

SMITH-MAGENIS SYNDROME; SMS

Culture Protocols

Split Ratio

1:7

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