NA03104

NA03104 DNA from LCL

Description:

HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880

Affected:

No Data

Sex:

Female

Age:

No Data

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Quantity

25 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

DNA from LCL

Relation to Proband

proband

Confirmation

Clinical summary/Case history

ISCN

46,XX

Species

Homo sapiens

Common Name

Human

Remarks

HLA type; A:3,3,B:35,35,C:4,4,D:1,1, DR:1,1; line IBW4; consanguineous parents; DP is type 1; 46,XX; 8% random chromosome loss/gain

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME

PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.

HLA TYPING

HLA type; A:3,3; B:35,35; C:4,4; D:1,1; DR:1,1

Phenotypic Data

Remarks

HLA type; A:3,3,B:35,35,C:4,4,D:1,1, DR:1,1; line IBW4; consanguineous parents; DP is type 1; 46,XX; 8% random chromosome loss/gain

Publications

Krebs I, Weis I, Hudler M, Rommens JM, Roth H, Scherer SW, Tsui LC, Fuchtbauer EM, Grzeschik KH, Tsuji K, Kunz J, Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome. Hum Mol Genet6:1079-86 1997

PubMed ID: 9215678

Woulfe SL, Bono CP, Zacheis ML, Welply JK, Kirschmann DA, Baudino TA, Wang Y, Stone DA, Hanson GJ, Vuletich JL, Bedell LJ, Schwartz BD, Howard SC, A peptidomimetic that specifically inhibits human leukocyte antigen DRB1*0401-restricted T cell proliferation. J Pharmacol Exp Ther281:663-9 1997

PubMed ID: 9152371

Woulfe SL, Bono CP, Zacheis ML, Kirschmann DA, Baudino TA, Swearingen C, Karr RW, Schwartz BD, Negatively charged residues interacting with the p4 pocket confer binding specificity to DRB1*0401. Arthritis Rheum38:1744-53 1995

PubMed ID: 8849346

Vamvakopoulos NC, Kunz J, Olberding U, Scherer SW, Sioutopoulou TO, Schneider V, Durkin AS, Nierman WC, Mapping the human growth hormone-releasing hormone receptor (GHRHR) gene to the short arm of chromosome 7 (7p13-p21) near the epidermal growth factor receptor (EGFR) gene. Genomics20:338-40 1994

PubMed ID: 8020995

Berchtold MW, Koller M, Egli R, Rhyner JA, Hameister H, Strehler EE, Localization of the intronless gene coding for calmodulin-like protein CLP to human chromosome 10p13-ter. Hum Genet90:496-500 1993

PubMed ID: 8428750

Winqvist R, Alhonen L, Grzeschik KH, Janne J, Eloranta TO, Mapping of the human spermidine synthase gene (SRM) to 1p36 and a probable pseudogene (SRML2) to region 3p14-->q21. Cytogenet Cell Genet64:64-8 1993

PubMed ID: 8508683

Srivastava R, Chorney MJ, Lawrance SK, Pan J, Smith Z, Smith CL, Weissman SM, Structure, expression, and molecular mapping of a divergent member of the class I HLA gene family [published erratum appears in Proc Natl Acad Sci U S A 1989 Jan;86(2):650] Proc Natl Acad Sci U S A84:4224-8 1987

PubMed ID: 2438694

Winqvist R, Makela TP, Seppanen P, Janne OA, Alhonen-Hongisto L, Janne J, Grzeschik KH, Alitalo K, Human ornithine decarboxylase sequences map to chromosome regions 2pter- ---p23 and 7cen----qter but are not coamplified with the NMYC oncogene. Cytogenet Cell Genet42:133-40 1986

PubMed ID: 3755388

Cole JL, Housley GA Jr, Dykman TR, MacDermott RP, Atkinson JP, Identification of an additional class of C3-binding membrane proteins of human peripheral blood leukocytes and cell lines. Proc Natl Acad Sci U S A82:859-63 1985

PubMed ID: 3871945

Brodsky FM, A matrix approach to human class II histocompatibility antigens: reactions of four monoclonal antibodies with the products of nine haplotypes. Immunogenetics19:179-194 1984

PubMed ID: 6200433

Engelhard VH, Benjamin C, Xenogeneic cytotoxic T-cell clones recognize alloantigenic determinants on HLA-A2. Immunogenetics18:461-473 1983

PubMed ID: 6196283

Goyert SM, Silver J, Further characterization of HLA-DS molecules: implications for studies assessing the role of human Ia molecules in cell interactions and disease susceptibility. Proc Natl Acad Sci U S A80:5719-23 1983

PubMed ID: 6193521

Shipp MA, Schwartz BD, Kannapell CC, Griffith RC, Scott MG, Ahmed P, Davie JM, Nahm MH, A unique DR-related B cell differentiation antigen. J Immunol131:2458-67 1983

PubMed ID: 6415171

Finn OJ, Levy R, Multiple HLA-DR antigens: detection with monoclonal antibodies and translation in vitro. Proc Natl Acad Sci U S A79:2658-62 1982

PubMed ID: 6979750