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GM20390 LCL from B-Lymphocyte

Description:

ACUTE LYMPHOCYTIC LEUKEMIA
TRANSLOCATED CHROMOSOME

Affected:

Yes

Sex:

Female

Age:

4 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
dbGaP
Class Heritable Cancer Syndromes and other Cancers
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race Asian
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,X,der(X;15)(15qter->15q11.2::Xp21->Xqter),t(1;19)(1pter->1q23::19p13->19pter;1qter->1q23::19p13->19qter),der(2)(2pter->2q35::22q11.2->22qter),t(3;5)(3pter->3q21::5q11.2->5qter;5pter->5q11.2::3q21->3qter),der(4)(21qter->21q11.2::4p13->4qter),der(9)(11pter->11p11.2::9p24->9qter),-9,del(11)(:p11.2->qter),-21,1~2mar[cp12].arr Xp22.33p11.22(168464-52911208)x1,Xp11.22q28(53809801-155233846)x3,9p24.1(4629337-5978120)x1,9p24.1p21.2(6873321-25872682)x1,9p21.2(26433904-29413903)x1,9q21.11q21.12(71361497-72904968)x1,9q22.33q31.1(100841489-104180857)x1,11p14.3p14.2(24446355-26566581)x1,11p12p11.2(43416303-44712996)x1,22q13.1q13.33(39576855-51234443)x3
Species Homo sapiens
Common Name Human
Remarks Clinically affected with pre-B acute lymphoblastic leukemia; donor subject suffered from general fatigue and anemia at age 3 years; bone-marrow examination at age 3 years showed 99% of blasts with French-American-British L1 morphology and pre-B-cell phenotype carrying a t(1;19)(q23;p13) translocation; early bone-marrow relapse occurred despite aggressive multidrug-combined chemotherapy; donor subject died from a fungal infection less than one year after diagnosis; cell line established from donor subject's peripheral blood at relapse; cells had basophilic cytoplasm with prominent vacuoles and oval nuclei with one or more prominent nuceoli; cells were negative for peroxidase, PAS, alpha-naphthyl butyrate esterase, and naphthol ASD chloroacetate esterase activities; cells expressed CD19, CD22, HLA-DR, and CD34 antigens but were negative for CD3, CD4, CD8, CD10, CD20, CD33, and surface immunoglobulins; cells harbored cIg and a rearranged Ig heavy-chain gene; cell line had neither E2A rearrangement nor PBX1 expression; cell line had no E2A/PBX1 chimeric transcripts; cloned breakpoints of cell line fell within introns of MEF2D and DAZAP1; the chimeric transcripts MEF2D-DAZAP1 and DAZAP1-MEF2D, whose sequences indicated in-frame fusions between MEF2D and DAZAP1, were expressed in the cell line and in bone-marrow cells from the donor subject.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Cytogenetics Chromosome 1: TRANSLOCATION Breakpoint 1q23
Chromosome 19: TRANSLOCATION Breakpoint 19p13

Phenotypic Data

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Remarks Clinically affected with pre-B acute lymphoblastic leukemia; donor subject suffered from general fatigue and anemia at age 3 years; bone-marrow examination at age 3 years showed 99% of blasts with French-American-British L1 morphology and pre-B-cell phenotype carrying a t(1;19)(q23;p13) translocation; early bone-marrow relapse occurred despite aggressive multidrug-combined chemotherapy; donor subject died from a fungal infection less than one year after diagnosis; cell line established from donor subject's peripheral blood at relapse; cells had basophilic cytoplasm with prominent vacuoles and oval nuclei with one or more prominent nuceoli; cells were negative for peroxidase, PAS, alpha-naphthyl butyrate esterase, and naphthol ASD chloroacetate esterase activities; cells expressed CD19, CD22, HLA-DR, and CD34 antigens but were negative for CD3, CD4, CD8, CD10, CD20, CD33, and surface immunoglobulins; cells harbored cIg and a rearranged Ig heavy-chain gene; cell line had neither E2A rearrangement nor PBX1 expression; cell line had no E2A/PBX1 chimeric transcripts; cloned breakpoints of cell line fell within introns of MEF2D and DAZAP1; the chimeric transcripts MEF2D-DAZAP1 and DAZAP1-MEF2D, whose sequences indicated in-frame fusions between MEF2D and DAZAP1, were expressed in the cell line and in bone-marrow cells from the donor subject.

Publications

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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
 
Herrera L, Santos S, Vesga MA, Anguita J, Martin-Ruiz I, Carrascosa T, Juan M, Eguizabal C, Adult peripheral blood and umbilical cord blood NK cells are good sources for effective CAR therapy against CD19 positive leukemic cells Scientific reports9:18729 2019
PubMed ID: 31822751
 
Prima V, Gore L, Caires A, Boomer T, Yoshinari M, Imaizumi M, Varella-Garcia M, Hunger SP, Cloning and functional characterization of MEF2D/DAZAP1 and DAZAP1/MEF2D fusion proteins created by a variant t(1;19)(q23;p13.3) in acute lymphoblastic leukemia. Leukemia19(5):806-13 2005
PubMed ID: 15744350
 
Yuki Y, Imoto I, Imaizumi M, Hibi S, Kaneko Y, Amagasa T, Inazawa J, Identification of a novel fusion gene in a pre-B acute lymphoblastic leukemia with t(1;19)(q23;p13). Cancer Sci95(6):503-7 2004
PubMed ID: 15182431

External Links

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Gene Cards TAL1
Gene Ontology GO:0003677 DNA binding
GO:0006355 regulation of transcription, DNA-dependent
GO:0008283 cell proliferation
GO:0030154 cell differentiation
NCBI Gene Gene ID:6886
NCBI GTR 187040 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1; TAL1
OMIM 187040 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1; TAL1
Omim Description STEM CELL LEUKEMIA HEMATOPOIETIC TRANSCRIPTION FACTOR; SCL
  T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1; TAL1
  T-CELL LEUKEMIA/LYMPHOMA 5; TCL5, FORMERLY

Images

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View FISH SKY
FISH SKY
karyotype Met 2
karyotype Met 2
karyotype Met 2
karyotype S04-01
karyotype S04-02

Culture Protocols

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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
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 -
Pricing
Commercial/For-profit:
$373.00USD
Academic/Non-profit/Government:
$216.00USD
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