GM24265

GM24265 LCL from B-Lymphocyte

Description:

TRANSLOCATED CHROMOSOME

Affected:

Yes

Sex:

Male

Age:

13 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Chromosome Abnormalities
DGAP

Cell Type

B-Lymphocyte

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

More than one race

Country of Origin

USA

Family History

Relation to Proband

proband

Confirmation

Karyotypic analysis before cell line submission to CCR

ISCN

46,XY,der(6)t(6;12)(p22;q24.1)del(6)(q13q14)t(6;20)(q12;p13),der(12)t(6;12)(q14;q24.1),der(20)t(6;20)(p22;p13).ish der(6)t(6;12)(p22;q24.1)del(6)(q13q14)t(6;20)(q12;p13)(12qtel87+,6ptel48-,D6Z1+,6qtel54-,20pthy33+,20qtel14-,wcp6+,wcp12+),der(12)t(6;12)(q14;q24.1)(12qtel87-,6qtel54+,wcp6+,wcp12+),der(20)t(6;20)(p22;p13)(20pthy33-,6ptel48+,D6Z1-,6qtel54-,20qtel14+,wcp6+,wcp12-).arr[hg19] 6q13q14.1(70101396-80164307)x1,7q31.32(121508476-121629393)x1,21q21.3(26877697-28322723)x1

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; dysmorphic facial features; failure to thrive; growth retardation; unilateral renal agenesis; cryptorchidism; aneurysm of sinus of Valsalva; epilepsy; agenesis of the ribs (11 pairs); developmental delay; combined language (receptive and expressive) and motor delay (fine and gross); pervasive developmental disorder (childhood disintegrative); occasional anxiety disorder (generalized and separation); agitation; tantrums; refer to DGAP133 (http://www.bwhpathology.org/dgap/).

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Phenotypic Data

Remarks

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

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD