GM02846

GM02846 Fibroblast

Description:

HURLER-SCHEIE SYNDROME

Affected:

Yes

Sex:

Female

Age:

14 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Lysosomal Storage Diseases

Class

Disorders of Carbohydrate Metabolism

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; alpha-L-iduronidase deficiency; similarly affected sister; passage 5 when entered repository.

Characterizations

L-iduronidase

According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.76

Phenotypic Data

Remarks

Clinically affected; alpha-L-iduronidase deficiency; similarly affected sister; passage 5 when entered repository.

Publications

Makino E, Klodnitsky H, Leonard J, Lillie J, Lund TC, Marshall J, Nietupski J, Orchard PJ, Miller WP, Phaneuf C, Tietz D, Varban ML, Donovan M, Belenki A, Fast, sensitive method for trisaccharide biomarker detection in mucopolysaccharidosis type 1 Scientific reports8:3681 2017

PubMed ID: 29487322

External Links

dbSNP

dbSNP ID: 15746

NCBI GTR

607015 HURLER-SCHEIE SYNDROME

OMIM

607015 HURLER-SCHEIE SYNDROME

Omim Description

HURLER-SCHEIE SYNDROME

Culture Protocols

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

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD