GM22112

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

Ethnicity

Not Hispanic/Latino

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; newborn screened and diagnosed at 1 week of age; failure to thrive; affected sister is GM22113; tachypnea; slow gut motility; g-tube; infrequent vomiting; seizures; acute anemia; walked at 18 months of age; talked at age 2 years; cognitive ability is moderately impaired; episodes of ketoacidosis once a month or more; chronic hyperammonemia; on metabolic formula and levocarnitine; donor subject is homozygous for a 14 bp deletion and a 12 bp insertion at nucleotide 1218 in exon 12 of the PCCB gene [c.1218_1231delinsTAGAGCACAGGA (c.1218del14ins12)] resulting in a frameshift and stop codon at Gly406 (Gly406fs)

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

PCCB

Chromosomal Location

3q21-q22

Allelic Variant 1

232050.0003; PROPIONIC ACIDEMIA

Identified Mutation

12-BP INS, 14-BP DEL, NT1218; Rodriguez-Pombo et al. (1998) found that the most frequent mutation causing PCCB deficiency (606054) in Spain and Latin America was an insertion/deletion of 12 bp and 14 bp, respectively, following nucleotide 1218. This mutation accounted for 31% of the alleles from Spanish patients and 47% of the alleles from Latin American patients. The ins/del caused a frameshift and a premature stop codon in the coding sequence.

Gene

PCCB

Chromosomal Location

3q21-q22

Allelic Variant 2

232050.0003; PROPIONIC ACIDEMIA

Identified Mutation

External Links

GEO

GEO Accession No: GSM1050427

GEO Accession No: GSM1050428

NCBI GTR

606054 PROPIONIC ACIDEMIA

OMIM

606054 PROPIONIC ACIDEMIA

Omim Description

PROPIONIC ACIDEMIA

Culture Protocols

Split Ratio

1:4

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not Inactivated

Substrate

None specified

Subcultivation Method

dilution - add fresh medium

Supplement

Description:

PROPIONIC ACIDEMIA

Affected:

Yes

Sex:

Female

Age:

12 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols