GM22230

GM22230 LCL from B-Lymphocyte

Description:

NIEMANN-PICK DISEASE, TYPE C1; NPC1
NPC1 GENE; NPC1

Affected:

Yes

Sex:

Male

Age:

10 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Lysosomal Storage Diseases

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

ITALIAN/PORTUGUESE/ENGLISH/SCOTTISH/IRISH

Family Member

Family History

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; diagnosed at age 10 1/2 years; neonatal jaundice; yellow sclerae for five days; enlarged spleen detected at age 5 years; clumsiness at age 7 years; learning difficulties beginning at age 8 years; ataxia observed at age 7-8 years; vertical gaze palsy observed at age 10 years; dysarthria observed at age 10 years; dysphagia detected at age 10 years; mild coughing when eating; mild cataplexy controlled by methylphenidate; affected sister is GM22229; donor subject is a compound heterozygote: one allele has an intronic mutation (IVS21-2A>G); the second allele has a C>T change at nucleotide 2932 in exon 20 of the NPC1 gene (2932C>T) resulting in the substitution of cysteine for arginine at codon 978 [Arg978Cys (R978C)]