HD200CAU HUMAN VARIATION PANEL

Description: HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200

Aliquot Size: 10 µg each

Sex: Males: 101 Females: 99

Brief Description: The Caucasian Panel of 200 consists of 200 self-declared Caucasians who are unrelated and are apparently healthy. There are 99 females and 101 males in this panel. The individual cell cultures of this panel are labeled GM17201-17300 and GM18001-18100; the corresponding DNA samples are labeled NA17201-17300 and NA1801-18100. Samples labeled GM17201-17300 represent those from the Caucasian Panel of 100; samples labeled GM18001-18100 represent an additional 100 individuals (an expansion of the Caucasian Panel of 100) and can be ordered separately from the original Caucasian Panel of 100.

Some samples in the Human Variation Collection have been assigned a second catalogue number to indicate inclusion in the Human Variation Collection in addition to their original catalogue number. A complete list of the alternative sample numbers can be downloaded as an Excel file.

Rehman AU, Morell RJ, Belyantseva IA, Khan SY, Boger ET, Shahzad M, Ahmed ZM, Riazuddin S, Khan SN, Riazuddin S, Friedman TB, Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79 American journal of human genetics86:378-88 2009
PubMed ID: 20170899
 
Weller AE, Dahl JP, Lohoff FW, Ferraro TN, Berrettini WH, Analysis of variations in the NAPG gene on chromosome 18p11 in bipolar disorder Psychiatric genetics16:3-8 2006
PubMed ID: 16395123
 
Ferraren DO, Liu C, Badner JA, Corona W, Rezvani A, Monje VD, Gershon ES, Bonner TI, Detera-Wadleigh SD, Linkage disequilibrium analysis in the LOC93081-KDELC1-BIVM region on 13q in bipolar disorder. Am J Med Genet B Neuropsychiatr Genet133(1):12-7 2005
PubMed ID: 15635705
 
Tahira T, Baba S, Higasa K, Kukita Y, Suzuki Y, Sugano S, Hayashi K, dbQSNP: a database of SNPs in human promoter regions with allele frequency information determined by single-strand conformation polymorphism-based methods Human mutation26:69-77 2005
PubMed ID: 15977179
 
McNabb LD, Moore KW, Scena JE, Buono RJ, Berrettini WH, Association analysis of CHMP15 genetic variation and bipolar disorder Psychiatric genetics15:211-4 2005
PubMed ID: 16094257
 
Faham M, Zheng J, Moorhead M, Fakhrai-Rad H, Namsaraev E, Wong K, Wang Z, Chow SG, Lee L, Suyenaga K, Reichert J, Boudreau A, Eberle J, Bruckner C, Jain M, Karlin-Neumann G, Jones HB, Willis TD, Buxbaum JD, Davis RW, Multiplexed variation scanning for 1,000 amplicons in hundreds of patients using mismatch repair detection (MRD) on tag arrays Proceedings of the National Academy of Sciences of the United States of America102:14717-22 2005
PubMed ID: 16203980
 
Mauvais-Jarvis F, Smith SB, Le May C, Leal SM, Gautier JF, Molokhia M, Riveline JP, Rajan AS, Kevorkian JP, Zhang S, Vexiau P, German MS, Vaisse C, PAX4 gene variations predispose to ketosis-prone diabetes Human molecular genetics13:3151-9 2004
PubMed ID: 15509590

12
Catalog IDSexAge at SamplingFamilyRelationshipGeneMutationAffected
NA17201Male25 YR700   No
       No
NA18034Female74 YR    No
       No
NA17286Female73 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17289Female73 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17286Female73 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17289Female73 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17242Female65 YR    No
NA17247Female65 YR  HLA-BHLA-B*5701 (Mono)No
NA17242Female65 YR    No
NA17247Female65 YR  HLA-BHLA-B*5701 (Mono)No
NA17251Female63 YR    No
NA18090Female63 YR    No
NA17251Female63 YR    No
NA18090Female63 YR    No
NA18043Female62 YR    No
       No
NA18067Female60 YR    No
       No
NA18089Female59 YR    No
       No
NA18073Female57 YR    No
NA18084Female57 YR    No
NA18073Female57 YR    No
NA18084Female57 YR    No
NA17233Female56 YR    No
NA18071Female56 YR    No
NA17233Female56 YR    No
NA18071Female56 YR    No
NA18019Female55 YR    No
       No
NA17279Female54 YR    No
       No
NA18022Female52 YR    No
       No
NA17218Female51 YR    No
NA17273Female51 YR    No
NA18057Female51 YR    No
NA17218Female51 YR    No
NA17273Female51 YR    No
NA18057Female51 YR    No
NA17290Female5 YR  HLA-BHLA-B*5701 (Mono)No
NA18003Female5 YR    No
NA17290Female5 YR  HLA-BHLA-B*5701 (Mono)No
NA18003Female5 YR    No
NA17224Female48 YR    No
NA17245Female48 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17224Female48 YR    No
NA17245Female48 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA18064Female47 YR    No
       No
NA17246Female46 YR  CYP2C19, CYP2D6IVSDS3, G>A, +1 (Mono), TRP120ARG (Mono)No
NA18058Female46 YR    No
NA18081Female46 YR    No
NA17246Female46 YR  CYP2C19, CYP2D6IVSDS3, G>A, +1 (Mono), TRP120ARG (Mono)No
NA18058Female46 YR    No
NA18081Female46 YR    No
NA18009Female45 YR    No
NA18060Female45 YR    No
NA18096Female45 YR    No
NA18009Female45 YR    No
NA18060Female45 YR    No
NA18096Female45 YR    No
NA17215Female44 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17217Female44 YR    No
NA18094Female44 YR    No
NA17215Female44 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17217Female44 YR    No
NA18094Female44 YR    No
NA18030Female41 YR    No
NA18062Female41 YR    No
NA18092Female41 YR    No
NA18030Female41 YR    No
NA18062Female41 YR    No
NA18092Female41 YR    No
NA18006Female40 YR    No
       No
NA18056Female4 YR    No
       No
NA17230Female37 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
      IVSDS3, G>A, +1 (Mono)No
NA17250Female35 YR    No
NA18052Female35 YR    No
NA17250Female35 YR    No
NA18052Female35 YR    No
NA17238Female34 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17266Female34 YR    No
NA17267Female34 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA18088Female34 YR    No
NA17238Female34 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17266Female34 YR    No
NA17267Female34 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA18088Female34 YR    No
NA17229Female33 YR    No
NA17294Female33 YR    No
NA18068Female33 YR    No
NA17229Female33 YR    No
NA17294Female33 YR    No
NA18068Female33 YR    No
NA17208Female32 YR    No
NA17257Female32 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17262Female32 YR    No
NA18013Female32 YR    No
NA17208Female32 YR    No
NA17257Female32 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17262Female32 YR    No
NA18013Female32 YR    No
NA17234Female31 YR    No
       No
NA18002Female30 YR    No
       No
NA17252Female28 YR  CYP2C9, CYP2D615489579A>C (Mono), IVSDS3, G>A, +1 (Mono)No
NA17260Female28 YR    No
NA17261Female28 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17284Female28 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17252Female28 YR  CYP2C9, CYP2D615489579A>C (Mono), IVSDS3, G>A, +1 (Mono)No
NA17260Female28 YR    No
NA17261Female28 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17284Female28 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17239Female27 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17258Female27 YR    No
NA18014Female27 YR    No
NA17239Female27 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17258Female27 YR    No
NA18014Female27 YR    No
NA17213Female26 YR    No
NA17236Female26 YR  CYP2D62850C>T (Mono), ARG296CYS AND SER486THR (Mono)No
NA17263Female26 YR    No
NA18053Female26 YR    No
NA18061Female26 YR    No
NA17213Female26 YR    No
NA17236Female26 YR  CYP2D62850C>T (Mono), ARG296CYS AND SER486THR (Mono)No
NA17263Female26 YR    No
NA18053Female26 YR    No
NA18061Female26 YR    No
NA17265Female25 YR    No
NA18031Female25 YR    No
NA18069Female25 YR    No
NA17265Female25 YR    No
NA18031Female25 YR    No
NA18069Female25 YR    No
NA17256Female24 YR    No
NA17296Female24 YR  CYP2D62613_2615delAGA (Mono)No
NA18098Female24 YR    No
NA17256Female24 YR    No
NA17296Female24 YR  CYP2D62613_2615delAGA (Mono)No
NA18098Female24 YR    No
NA17202Female23 YR    No
NA17204Female23 YR    No
NA17206Female23 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17209Female23 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA18001Female23 YR    No
NA18028Female23 YR    No
NA17202Female23 YR    No
NA17204Female23 YR    No
NA17206Female23 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17209Female23 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA18001Female23 YR    No
NA18028Female23 YR    No
NA17210Female22 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17216Female22 YR    No
NA17221Female22 YR  CYP2C9, CYP2D615489579A>C (Mono), DUP (Mono)No
NA17275Female22 YR    No
NA17277Female22 YR    No
NA18025Female22 YR    No
NA18063Female22 YR    No
NA17210Female22 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17216Female22 YR    No
NA17221Female22 YR  CYP2C9, CYP2D615489579A>C (Mono), DUP (Mono)No
NA17275Female22 YR    No
NA17277Female22 YR    No
NA18025Female22 YR    No
NA18063Female22 YR    No
NA18070Female21 YR    No
       No
NA17293Female20 YR  CYP2D62613_2615delAGA (Mono)No
      2613_2615delAGA (Mono)No
NA17274Female19 YR  CYP2D6ARG296CYS AND SER486THR (Mono)No
NA18038Female19 YR    No
NA18059Female19 YR    No
NA17274Female19 YR  CYP2D6ARG296CYS AND SER486THR (Mono)No
NA18038Female19 YR    No
NA18059Female19 YR    No
NA18023Female18 YR    No
       No
NA18012Female14 YR    No
       No
NA17299Female     No
NA18026Female     No
NA18035Female     No
NA18040Female     No
NA18042Female     No
NA18045Female     No
NA18047Female     No
NA17299Female     No
NA18026Female     No
NA18035Female     No
NA18040Female     No
NA18042Female     No