GM01512

GM01512 Fibroblast

Description:

TRANSLOCATED CHROMOSOME

Affected:

No Data

Sex:

Male

Age:

26 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Chromosome Abnormalities
DGAP

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Relation to Proband

proband

Confirmation

Karyotypic analysis after cell line submission to CCR

ISCN

46,XY,t(8;10)(8qter>8p21.1::10p15> 10pter;10qter>10p15::8p21.1>8pter)

Species

Homo sapiens

Common Name

Human

Remarks

Small testes; both parents apparently healthy; mother also carried the translocation

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Chromosome Analysis

Cytogenetics

Chromosome 10: TRANSLOCATION Breakpoint 10p15 t(8;10)10p15

Chromosome 8: TRANSLOCATION Breakpoint 8p21 t(8;10)8p21

Phenotypic Data

Remarks

Small testes; both parents apparently healthy; mother also carried the translocation

Publications

Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC, Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project American journal of human genetics82:712-22 2007

PubMed ID: 18319076

External Links

dbSNP

dbSNP ID: 17624

Culture Protocols

Passage Frozen

Split Ratio

1:3

Temperature

37 C

Percent CO2

Medium

Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not inactivated

Substrate

None specified

Subcultivation Method

trypsin-EDTA

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD