NA13241

NA13241 DNA from Fibroblast

Description:

LIPOID PROTEINOSIS OF URBACH AND WIETHE

Affected:

Yes

Sex:

Male

Age:

65 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Lipid Metabolism

Quantity

0.050mg

Quantitation Method

Please see our FAQ

Cell Type

Fibroblast

Transformant

Untransformed

Sample Source

DNA from Fibroblast

Race

White

Ethnicity

GERMAN

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Diagnosed at age 32; similarly affected brother; larynx, eyelids, tongue, & skin of elbows & axillae show involvement; has had tracheostomy to relieve respiratory distress; persistent hoarseness

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

Phenotypic Data

Remarks

Diagnosed at age 32; similarly affected brother; larynx, eyelids, tongue, & skin of elbows & axillae show involvement; has had tracheostomy to relieve respiratory distress; persistent hoarseness