GM14952

GM14952 LCL from B-Lymphocyte

Description:

THROMBOCYTOPENIA
ACUTE LYMPHOCYTIC LEUKEMIA

Affected:

Yes

Sex:

Male

Age:

67 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Uncertain Biochemical Etiology

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

ENGLISH/IRISH

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Acute leukemia; three generations of family with low platelet counts and abnormal bone marrow megakaryotypes; 2 affected children and 1 affected grandchild; 46,XY,del(11)(q23){16}/46,XY{4} in bone marrow

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

Phenotypic Data

Remarks

Publications

Ching T, Duncan ME, Newman-Eerkes T, McWhorter MME, Tracy JM, Steen MS, Brown RP, Venkatasubbarao S, Akers NK, Vignali M, Moorhead ME, Watson D, Emerson RO, Mann TP, Cimler BM, Swatkowski PL, Kirsch IR, Sang C, Robins HS, Howie B, Sherwood A, Analytical evaluation of the clonoSEQ Assay for establishing measurable (minimal) residual disease in acute lymphoblastic leukemia, chronic lymphocytic leukemia, and multiple myeloma BMC cancer20:612 2020

PubMed ID: 32605647