GM22581

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; no family history; failure to thrive; acute pancreatitis; port-a-cath in place; normal gut motility; fed by G-tube; infrequent vomiting; basal ganglia damage; acute neutropenia; acute anemia; immunodeficiency treated with IVIG; acutely low platelets; broken arm; short stature; began walking at 2 years of age; began talking at 3.5 years of age; language significantly below age level; cognitive ability moderately impaired; episodes of ketoacidosis once a week or more; chronic hyperammonemia <2 times normal; currently on metabolic formula; donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 418 of the PCCA gene (c.418delC) resulting in a frameshift (H140fs) and the second allele has a 3 bp deletion at nucleotide 1593 in exon 18 (1593_1595delATT) resulting in a frameshift and stop at codon Leu532