GM27954

Coriell Institute for Medical Research

Request a Quote
Careers
Login
View Cart

Samples OR Website

Search Help?

Sample Catalog | Custom Services | Core Facilities | Genomic Data Search

Biobank
Research
Services
Browse
Ordering
Donate
About Us

search submit

GM27954 Fibroblast from Skin, Back

Description:

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5
BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION; BPAN
WD REPEAT-CONTAINING PROTEIN 45; WDR45

Affected:

Yes

Sex:

Female

Age:

7 YR (At Sampling)

Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Biopsy Source

Back

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Back

Race

White

Ethnicity

Hispanic/Latino

Ethnicity

Mexican

Country of Origin

USA

Family History

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Characterizations

PDL at Freeze

5.5

Gene

WDR45

Chromosomal Location

Xp11.23

Allelic Variant 1

p.Y336CfsX5;

Identified Mutation

c.1007_1008delAT (p.Y336CfsX5)

Phenotypic Data

Demographic Data

Age at Sampling

7 YR

Sex

Female

Age of Onset(If not a control)

3 MO

Age at Diagnosis(If not a control)

6 YR

Hispanic or Latino/Not Hispanic or Latino

Hispanic/Latino

Racial Category

White

Country

USA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Gene, variant, consequence, and exon number:

EXOME ANALYSIS OF GENOMIC DNA REVEALED A DE NOVO HETEROZYGOUS PATHOGENIC VARIANT IN EXON 12 OF THE WDR45 GENE (NM_007075.3) C.1007_1008DELAT (P.Y336CFSX5)

Zygosity:

Heterozygous

Other variants:

SNP MIRCOARRAY ANALYSIS USING WHOLE GENOME OLIGONUCLEOTIDE ARRAY DID NOT REVEAL ANY ABERRATIONS ARR(1-22,X)X2; MITOCHONDRIAL SEQUENCE ANALYSIS DID NOT REVEAL ANY PATHOGENIC VARIANTS

Age of Symptom Onset and Age at Diagnosis

Age of Symptom Onset:

3 MONTHS

Age at Diagnosis:

6 YEARS

In Utero History Information

Birth History Information

Dysmorphic Features

Neurological Symptoms

Corpus callosum abnormalities
Dystonia
Hypotonia
Seizures
White matter issues

Additional Information:

MRI REVEALED ASYMMETRIC DILATION OF THE LEFT LATERAL VENTRICLE, THIN CORPUS CALLOSUM, DIMINISHED WHITE MATTER VOLUME IN THE HEMISPHERES SYMMETRICALLY WITH LINEAR BANDLIKE INCREASED T2 SIGNAL AND FLAIR SIGNAL IN WHITE MATTER SURROUNDING FOURTH VENTRICLE; ABNORMAL EEG DUE TO FOCAL AND BISYNCHRONUS EPILEPTIFORM DISCHARGES

Optical and Audiological Symptoms

Nystagmus

Additional Information:

OPTIC NERVE PALOR; CONGENITAL NYSTAGMUS; DILATED FUNDUS EXAM SHOWED A NORMAL RETINA WITH A CUP:DISK RATIO OF 0.5

Musculoskeletal Symptoms

Developmental Milestones

Delayed speech and language development

Additional Information:

DELAYED MOTOR DEVELOPMENT

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Additional Information

Testing Performed

Treatments and Assistive Devices

Occupational therapy
Physical therapy
Speech therapy
Orthotics
Communication or learning devices

Medications

VITAMIN E; VITAMIN D; COENZYME Q10; MELATONIN; KEPPRA (SINCE DISCONTINUED); LEVETIRACETAM

Family History

External Links

Gene Cards

WDR45

NCBI GTR

300526 WD REPEAT-CONTAINING PROTEIN 45; WDR45

300894 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5

OMIM

300526 WD REPEAT-CONTAINING PROTEIN 45; WDR45

300894 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5

Culture Protocols

Split Ratio

1:6

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

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD

Add to Cart

How to Order

Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form

Description:

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5 BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION; BPAN WD REPEAT-CONTAINING PROTEIN 45; WDR45

Affected:

Yes

Sex:

Female

Age:

7 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5
BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION; BPAN
WD REPEAT-CONTAINING PROTEIN 45; WDR45