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GM07439 LCL from B-Lymphocyte

Description:

CYSTIC FIBROSIS; CF

Affected:

No

Sex:

Female

Age:

No Data

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Pharmacogenetics
GeT-RM Samples
Class Other Disorders of Known Biochemistry
Alternate IDs GM17164 [CYSTIC FIBROSIS; CF]
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race Black/African American
Ethnicity AFRICAN-AMERICAN
Family Member 7
Relation to Proband mother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically normal; 3 affected children; negative for the F508, G551D, R553X, G542X, and N1303K mutations

Characterizations

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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 1,1 2,2 1,1 1,2 2,2 1,1 1,2 1,2 Negative for F508, G551D, R553X, G542X, and N1303K mutations. The above results were kindly provided to the Repository by Dr. Arthur L. Beaudet, Baylor College of Medicine, Houston, TX.
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.
 
Pharmacogenomics Panel For pharmacogenetic variants please click here: GeT-RM PGx Search
 
Gene CYP2C19
Chromosomal Location 10q23.33
Allelic Variant 2 P227L; MEPHENYTOIN 4-HYDROXYLASE POOR METABOLIZER
Identified Mutation PRO227LEU

Phenotypic Data

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Remarks Clinically normal; 3 affected children; negative for the F508, G551D, R553X, G542X, and N1303K mutations

Publications

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Charnaud S, Munro JE, Semenec L, Mazhari R, Brewster J, Bourke C, Ruybal-Pesántez S, James R, Lautu-Gumal D, Karunajeewa H, Mueller I, Bahlo M, PacBio long-read amplicon sequencing enables scalable high-resolution population allele typing of the complex CYP2D6 locus Communications biology5:168 2021
PubMed ID: 35217695
 
Pratt VM, Turner A, Broeckel U, Dawson DB, Gaedigk A, Lynnes TC, Medeiros EB, Moyer AM, Requesens D, Ventrini F, Kalman LV, Characterization of Reference Materials for CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, GGCX, and Other Pharmacogenetic Alleles with an Association for Molecular Pathology (AMP) Pharmacogenetics Working Group Tier 2 Status - A GeT-RM Collaborative Project The Journal of molecular diagnostics : JMD5:168 2021
PubMed ID: 34020041
 
Scott SA, Scott ER, Seki Y, Chen AJ, Wallsten R, Owusu Obeng A, Botton MR, Cody N, Shi H, Zhao G, Brake P, Nicoletti P, Yang Y, Delio M, Shi L, Kornreich R, Schadt EE, Edelmann L, Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection Clinical and translational science14:204-213 2020
PubMed ID: 32931151
 
Gaedigk A, Turner A, Everts RE, Scott SA, Aggarwal P, Broeckel U, McMillin GA, Melis R, Boone EC, Pratt VM, Kalman LV, Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles A GeT-RM Collaborative Project The Journal of molecular diagnostics : JMD14:204-213 2019
PubMed ID: 31401124
 
Suzuki O, Dong OM, Howard RM, Wiltshire T, Characterizing the pharmacogenome using molecular inversion probes for targeted next-generation sequencing Pharmacogenomics20:1005-1020 2019
PubMed ID: 31559919
 
Bettinotti MP1, Ferriola D2, Duke JL2, Mosbruger TL2, Tairis N2, Jennings L3, Kalman LV4, Monos D5., Characterization of 108 Genomic DNA Reference Materials for 11 Human Leukocyte Antigen Loci: A GeT-RM Collaborative Project. Journal of Molecular Diagnostics18:30111-30119 2018
PubMed ID: 29959025
 
Pratt VM, Cavallari LH, Del Tredici AL, Hachad H, Ji Y, Moyer AM, Scott SA, Whirl-Carrillo M, Weck KE, Recommendations for Clinical CYP2C9 Genotyping Allele Selection: A Joint Recommendation of the Association for Molecular Pathology and College of American Pathologists The Journal of molecular diagnostics : JMD21:746-755 2018
PubMed ID: 31075510
 
Swart M, Stansberry WM, Pratt VM, Medeiros EB, Kiel PJ, Shen F, Schneider BP, Skaar TC, Analytical Validation of Variants to Aid in Genotype-Guided Therapy for Oncology The Journal of molecular diagnostics : JMD21:491-502 2018
PubMed ID: 30794985
 
Pratt VM, Everts RE, Aggarwal P, Beyer BN, Broeckel U, Epstein-Baak R, Hujsak P, Kornreich R, Liao J, Lorier R, Scott SA, Smith CH, Toji LH, Turner A, Kalman LV., Analytical Validation of Variants to Aid in Genotype-Guided Therapy for Oncology Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project.18(1):109-23 2016
PubMed ID: 26621101
 
Lee CC, McMillin GA, Babic N, Melis R, Yeo KT, Evaluation of a CYP2C19 genotype panel on the GenMark eSensor® platform and the comparison to the Autogenomics Infiniti™ and Luminex CYP2C19 panels Clinica chimica acta; international journal of clinical chemistry412(11-12):133-7 2010
PubMed ID: 21385571
 
Pratt VM, Zehnbauer B, Wilson JA, Baak R, Babic N, Bettinotti M, Buller A, Butz K, Campbell M, Civalier C, El-Badry A, Farkas DH, Lyon E, Mandal S, McKinney J, Muralidharan K, Noll L, Sander T, Shabbeer J, Smith C, Telatar M, Toji L, Vairavan A, Vance C, Weck KE, Wu AH, Yeo KT, Zeller M, and Kalman L., Characterization of 107 Genomic DNA Reference Materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1 J Mol Diagn12(6):835-46 2010
PubMed ID: 20889555
 
Matsuzaki H, Dong S, Loi H, Di X, Liu G, Hubbell E, Law J, Berntsen T, Chadha M, Hui H, Yang G, Kennedy GC, Webster TA, Cawley S, Walsh PS, Jones KW, Fodor SP, Mei R, Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. Nat Methods1(2):109-11 2004
PubMed ID: 15782172
 
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

External Links

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dbSNP dbSNP ID: 10991
GEO GEO Accession No: GSM617121
NCBI GTR 219700 CYSTIC FIBROSIS; CF
OMIM 219700 CYSTIC FIBROSIS; CF
Omim Description CYSTIC FIBROSIS; CF
  MUCOVISCIDOSIS

Culture Protocols

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Split Ratio 1:4
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
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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