GM11195

GM11195 LCL from B-Lymphocyte

Description:

PHENYLKETONURIA

Affected:

Yes

Sex:

Male

Age:

8 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Amino Acid Metabolism

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

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; hyperphenylalaninemia; donor subject is a compound heterozygote with two pathogenic mutations: one allele has a 23-bp deletion in exon 6 at nucleotide 590 (c.590_612del23; 590_612del23) and a second allele has a splice site mutation in exon 8 at nucleotide 912 (c.912+1G>A; IVS8+1G>A]; similarly affected brother (GM11196, lymph).

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

Gene

PAH

Chromosomal Location

12q24.1

Allelic Variant 1

; PHENYLKETONURIA

Identified Mutation

23-BP DEL, NT590 (c.590_612del23)

Gene

PAH

Chromosomal Location

12q24.1

Allelic Variant 2

; PHENYLKETONURIA

Identified Mutation

IVS8+1G>A (c.912+1G>A)

Phenotypic Data

Remarks

Publications

Veleva D, Ay M, Ovchinnikov DA, Prowse ABJ, Menezes MJ, Nafisinia M, Generation of two lymphoblastoid-derived induced pluripotent stem cell (iPSC) lines from patients with phenylketonuria Stem cell research77:103407 2024

PubMed ID: 38552357

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 Bioinformatics19:103407 2018

PubMed ID: 30326846