IMGT Repertoire (IG and TR)

Locus representation: Human (Homo sapiens) Available cell lines with IGHC multigene deletions

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Locus representation: Human (Homo sapiens) IGHC multigene deletions in healthy individuals

Citing this page: Lefranc M-P. et al. (1982) Nature 300:760-762 PMID:6817143.

Lefranc G. et al. (1983) Eur J Immunol 13:240-244 PMID:6832214.

Lefranc M-P. et al. (1983) Mol Biol Med 1:207-217 PMID:6438434.

Cell lines with IGHC multigene deletions from healthy individuals

Four Epstein-Barr-transformed lymphoblastoid cell lines with IGHC multigene deletions from healthy individuals are available at ECACC:

TAK3 ^{[1, 2]} and EZZ (TOU II-4) ^{[1, 3]} are cell lines homozygous for deletion I (del G1-EP1-A1-GP-G2-G4) ^{[1, 2]}.
TOU (TOU I-2) and MOH (TOU II-3) ^[3] are cell lines heterozygous for deletions I (del G1-EP1-A1-GP-G2-G4) ^{[1, 2]} and deletion II (del EP1-A1-GP) ^[3].
TOU (TOU I-2) and MOH (TOU II-3) are from the mother and from the brother of EZZ (TOU II-4), respectively.

Cell line name	PHE General Cell Collection Catalogue number (ECACC)	Deletion type ⁽¹⁾	Source	Gm-Am genotype ^{(2, 3)}
TAK3	93093004	I/I ^{[1, 2]} The TAK3 cell line contains the following deletion, at the homozygous state, in the human immunoglobulin heavy locus (IGH on chromosome 14 at 14q32.33), of 6 IGHC genes: on both chromosomes 14, deletion I (del G1-EP1-A1-GP-G2-G4) ^{[1, 2]}.	Peripheral blood lymphocytes from a healthy female Tunisian, immortalised by EBV transformation.	Gm5; - ; - A2m2 / Gm5; - ; - A2m2 (Gm b; - ; - A2m2 / Gm b; - ; - A2m2).
EZZ (TOU II-4)	93093003	I/I ^{[1, 3]} The EZZ (TOU II-4) cell line contains the following deletion, at the homozygous state, in the human immunoglobulin heavy locus (IGH on chromosome 14 at 14q32.33), of 6 IGHC genes: on both chromosomes 14, deletion I (del G1-EP1-A1-GP-G2-G4) ^{[1, 2]}. The EZZ deletion (deletion I), which encompasses 160 kb involves two highly homologous regions located 13 kb downstream of IGHG3 and 13 kb downstream of IGHG4. ^[4]	Peripheral blood lymphocytes from a healthy male Tunisian, immortalised by EBV transformation.	Gm5; - ; - A2m2 / Gm5; - ; - A2m2 (Gm b; - ; - A2m2 / Gm b; - ; - A2m2).
MOH (TOU II-3)	93093002	I/II ^[3] The MOH (TOU II-3) cell line contains the following deletions, in the human immunoglobulin heavy locus (IGH on chromosome 14 at 14q32.33), of 6 and 3 IGHC genes, respectively: on one chromosome 14, deletion I (del G1-EP1-A1-GP-G2-G4) ^{[1, 2]} and on the other chromosome 14, deletion II (del EP1-A1-GP) ^{[1, 3]}.	Peripheral blood lymphocytes from a healthy male Tunisian, immortalised by EBV transformation.	Gm5; - ; - A2m2 / Gm21;17,1;.. A2m2 (Gmb; - ; - A2m2 / Gmg;za;.. A2m2).
TOU (TOU I-2)	93093001	I/II ^[2] The TOU (TOU I-2) cell line contains the following deletions, in the human immunoglobulin heavy locus (IGH on chromosome 14 at 14q32.33), of 6 and 3 IGHC genes, respectively: on one chromosome 14, deletion I (del G1-EP1-A1-GP-G2-G4) ^{[1, 2]} and on the other chromosome 14, deletion II (del EP1-A1-GP) ^{[1, 3]}.	Peripheral blood lymphocytes from a healthy female Tunisian, immortalised by EBV transformation.	Gm5; - ; - A2m2 / Gm21;17,1;.. A2m2 (Gmb; - ; - A2m2 / Gmg;za;.. A2m2).

IMGT notes:

(1) For review on the deletion types, see [5, 6, 7].
(2) For review on the allotypes, see [8].
(3) Gm allotypes are indicated in the order G3m; G1m; G2m. The absence of G1m and G2m allotypes due to the deletion of the IGHG1 and IGHG2 genes is indicated by (-). Only one allotype is defined on the gamma 2 chain and may or may not be present; (..) indicates the absence of this allotype.

References:

[1] Lefranc M-P, Lefranc G, Rabbitts TH. 1982 Inherited deletion of immunoglobulin heavy chain constant region genes in normal human individuals. Nature 300(5894):760-2. PMID: 6817143
[2] Lefranc G, Chaabani H, Van Loghem E, Lefranc M-P, De Lange G, Helal AN. 1983 Simultaneous absence of the human IgG1, IgG2, IgG4 and IgA1 subclasses: immunological and immunogenetical considerations. Eur J Immunol 13:240-4. PMID: 6832214
[3] Lefranc M-P, Lefranc G, de Lange G, Out TA, van den Broek PJ, van Nieuwkoop J, Radl J, Helal AN, Chaabani H, van Loghem E, Rabbitts TH. 1983 Instability of the human immunoglobulin heavy chain constant region locus indicated by different inherited chromosomal deletions. Mol Biol Med. 1(2):207-17. PMID: 6438434
[4] Keyeux G, Lefranc G, Lefranc M-P. 1989 A multigene deletion in the human IGH constant region locus involves highly homologous hot spots of recombination. Genomics 5(3):431-41. PMID: 2613231
[5] Lefranc M-P, Lefranc G. 1987 Human immunoglobulin heavy-chain multigene deletions in healthy individuals. FEBS Letters 213(2):231-7. PMID: 3104087
[6] Lefranc M-P, Hammarström L, Smith CI, Lefranc G. 1991 Gene deletions in the human immunoglobulin heavy chain constant region locus: molecular and immunological analysis. Immunodeficiency reviews 2(4):265-81. PMID: 1905558
[7] Wiebe V, Helal A, Lefranc M-P, Lefranc G. 1994 Molecular analysis of the T17 immunoglobulin CH multigene deletion (del A1-GP-G2-G4-E). Human Genetics 93(5):520-8. PMID: 8168828
[8] Lefranc M-P, Lefranc G. 2012 Human Gm, Km and Am allotypes and their molecular characterization: a remarkable demonstration of polymorphism. Methods Mol Biol. 882:635-80. PMID: 22665258