GM03478

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Connective Tissue, Muscle, and Bone

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Relation to Proband

proband

Confirmation

Clinical summary/Case history

ISCN

92,XXYY[12]/46,XY[38]

Species

Homo sapiens

Common Name

Human

Remarks

Typical facies; clinodactyly; fibroblasts show 46,XY/92,XXYY; 76%/24% with fragments, breakage, and random loss

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Chromosome Analysis

External Links

dbSNP

dbSNP ID: 18270

NCBI GTR

122470 CORNELIA DE LANGE SYNDROME 1; CDLS1

OMIM

122470 CORNELIA DE LANGE SYNDROME 1; CDLS1

Omim Description

BRACHMANN-DE LANGE SYNDROME; BDLS

CORNELIA DE LANGE SYNDROME 1; CDL1

CORNELIA DE LANGE SYNDROME; CDL

TYPUS DEGENERATIVUS AMSTELODAMENSIS

Culture Protocols

Passage Frozen

Split Ratio

1:3

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

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

Description:

CORNELIA DE LANGE SYNDROME 1; CDLS1

Affected:

Yes

Sex:

Male

Age:

4 DA (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols