GM22208

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 Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; diagnosed at 3 days of age by newborn screening; failure to thrive; no family history; mitral valve regurgitation; normal gut motility; reflux; no eating by mouth; GJ-tube; vomiting once a month or more; acute neutropenia; chronic anemia; acute low platelets; walked at 16 months of age; talked at age 1 year; mildly impaired cognitive ability; on metabolic formula and levocarnitine; donor subject is a compound heterozygote: allele 1: has a substitution of arginine for lysine at codon 298 in exon 11 of the PCCA gene [Lys298Arg (K298R)] and allele 2: has a deletion of exons 13-20

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

PCCA

Chromosomal Location

13q32

Allelic Variant 1

K298R; PROPIONIC ACIDEMIA

Identified Mutation

LYS298ARG

Gene

PCCA

Chromosomal Location

13q32

Allelic Variant 2

deletion of exons 13-20; PROPIONIC ACIDEMIA

Identified Mutation

DEL EX13-20

Publications

Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee and Inho ParkEmail, DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data BMC Bioinformatics19: 2018

PubMed ID: 30326846