GM07381

GM07381 LCL from B-Lymphocyte

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Male

Age:

11 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Other Disorders of Known Biochemistry

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

Three sibs are also affected; 1 allele has the F508 deletion mutation [PHE508DEL], a second allele carries the 3849+10kb,C>T mutation in intron 19

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

CYSTIC FIBROSIS GENE: RFLP HAPLOTYPES & MUTATION STUDIES

PROBE: metD metD metH metH XV-2c KM.19 pJ3.11 pJ3.11 JG ENZYME: BanI TaqI MspI TaqI TaqI PstI MspI TaqI PstI RESULTS: 1,2 1,2 2,2 1,1 1,2 2,2 1,2 1,2 2,2 The above results were kindly provided to the Repository by Dr Arthur L. Beaudet, Baylor College of Medicine, Houston, TX. Heterozygous for the F508 deletion mutation (C. Goodpasture, VIVIGEN, Santa Fe, NM, personal communication).

GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME

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

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 1

602421.0001; CYSTIC FIBROSIS

Identified Mutation

PHE508DEL; Deletion of codon 508 (CTT) in exon 10 leads to deletion of phenylalanine-508 (delta-F508).

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 2

602421.0062; CYSTIC FIBROSIS

Identified Mutation

IVS19DS, +10 KB, C>T (3849+10kbC>T); Referred to as 3849 + 10 kb C-to-T, this mutation in intron 19 is one of the 5 common mutations found in Ashkenazi Jewish patients with CF. The other four are delF508 (602421.0001), G542X (602421.0009), W1282X (602421.0022), and N1303K (602421.0032).

Phenotypic Data

Remarks

Three sibs are also affected; 1 allele has the F508 deletion mutation [PHE508DEL], a second allele carries the 3849+10kb,C>T mutation in intron 19

Publications

Del Rey J1, Vidal F2,3,4, Ramírez L2, Borràs N2, Corrales I2, Garcia I2, Martinez-Pasarell O5, Fernandez SF6, Garcia-Cruz R6, Pujol A1,7, Plaja A1,8, Salaverria I1,9, Oliver-Bonet M1, Benet J1, Navarro J1., Novel Double Factor PGT strategy analyzing blastocyst stage embryos in a single NGS procedure. PLoS One13: 2018

PubMed ID: 30332465

Naylor SL, Barnett DR, Buchanan JM, Latimer J, Wieder K, Marshall S, Gardner J, Denning CR, Gluckson M, Pinero R, et al, Linkage of cystic fibrosis locus and polymorphic DNA markers in 14 families. Am J Hum Genet39:707-12 1986

PubMed ID: 3026173

Spence JE, Rosenbloom CL, O'Brien WE, Seilheimer DK, Cole S, Ferrell RE, Stern RC, Beaudet AL, Linkage of DNA markers to cystic fibrosis in 26 families. Am J Hum Genet39:729-34 1986

PubMed ID: 2879439