GM23221

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

Hispanic/Latino

Ethnicity

Hispanic/Latino

Ethnicity

COSTA RICAN

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; newborn screened; eating by mouth; seizures; walked at 15 months of age; talked at 20 months of age; on metabolic formula and levocarnitine; donor subject is a compound heterozygote: one allele has a 4 bp deletion at nucleotide 1824+3 in intron 21 of the PCCA gene(IVS21+3del4) resulting in the skipping of intron 21 and the second allele has a substitution of cysteine for arginine at codon 243 [Arg243Cys (R243C)]

Characterizations

Gene

PCCA

Chromosomal Location

13q32

Allelic Variant 1

232000.0001; PROPIONIC ACIDEMIA

Identified Mutation

4-BP DEL, 1824IVS+3

Gene

PCCA

Chromosomal Location

13q32

Allelic Variant 2

R243C; PROPIONIC ACIDEMIA

Identified Mutation

ARG243CYS

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