GM06871

GM06871 Fibroblast

Description:

ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC

Affected:

No Data

Sex:

Female

Age:

1 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Chromosome Abnormalities

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Ethnicity

LATIN AMERICAN

Family Member

Relation to Proband

proband

Confirmation

Karyotypic analysis after cell line submission to CCR

ISCN

47,XX,+i(18)(pter>p10::p10>pter)

Species

Homo sapiens

Common Name

Human

Remarks

Microcephaly; developmental delay; epicanthal folds; broad philtrum; clinodactyly; absent depressor angulus oris muscle; hemiparesis; centromere of isochromosome confirmed by probe (D18Z1) analysis of lymphoid culture; see GM06870 Lymphoid

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Chromosome Analysis

Cytogenetics

Chromosome 18: ANEUPLOID Aneuploid Segment (+)18pter>18p10

Chromosome 18: ANEUPLOID Trisomic Segment 18pter>18p10

Chromosome 18: ISOCHROMOSOME Aneuploid Segment (+)18pter>18p10

Chromosome 18: ISOCHROMOSOME Trisomic Segment 18pter>18p10

Phenotypic Data

Remarks

External Links

dbSNP

dbSNP ID: 21977

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