GM05396

GM05396 Fibroblast

Description:

DICENTRIC CHROMOSOME

Affected:

No Data

Sex:

Female

Age:

2 MO (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Chromosome Abnormalities

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Relation to Proband

proband

Confirmation

Karyotypic analysis after cell line submission to CCR

ISCN

45,X,der(22)t(X;22)(Xqter> Xp11::22p12>22qter)

Species

Homo sapiens

Common Name

Human

Remarks

Pixie-like appearance; simple ears; high palatine arch; micrognathia; hypotonia; poor weight gain; X chromosome portion of derivative chromosome is late replicating

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Chromosome Analysis

Cytogenetics

Chromosome 22: ANEUPLOID Aneuploid Segment (-)22pter>22p12

Chromosome 22: DERIVATIVE CHROMOSOME Aneuploid Segment (-)22pter>22p12

Chromosome 22: DICENTRIC CHROMOSOME Aneuploid Segment (-)22pter>22p12

Chromosome X: ANEUPLOID Aneuploid Segment (-)Xpter>Xp11

Chromosome X: DERIVATIVE CHROMOSOME Aneuploid Segment (-)Xpter>Xp11

Chromosome X: DICENTRIC CHROMOSOME Aneuploid Segment (-)Xpter>Xp11

Phenotypic Data

Remarks

Pixie-like appearance; simple ears; high palatine arch; micrognathia; hypotonia; poor weight gain; X chromosome portion of derivative chromosome is late replicating

Publications

Carrel L, Willard HF, Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci U S A96:7364-9 1999

PubMed ID: 10377420

External Links

dbSNP

dbSNP ID: 18618

Culture Protocols

Passage Frozen

Split Ratio

1:5

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