text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 88 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND35687 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


status: PUBLIC

tag: attribute

characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 45 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal father of four affected children;affected son is GM20189;donor subject is heterozygous for a C>T transition at nucleotide 1498 in exon 5 of the MARVELD2 (TRIC) gene (c.1498C>T) resulting in an arg500-to-stop substitution Arg500Ter (R500X)

characteristic: description

text: PAKISTANI

characteristic: ethnicity

characteristic: family id

text: father

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: East Indian

characteristic: race

text: Male

characteristic: sex

characteristic: tag

text: Marvel domain-containing protein 2

text: Deafness autosomal recessive 49

text: GM20188 male unaffected Marveld2 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND35688 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 20 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hearing loss confirmed by audiometry;product of consanguineous marriage;three affected siblings;father is GM20188;donor subject is homozygous for a C>T transition at nucleotide 1498 in exon 5 of the MARVELD2 (TRIC) gene (c.1498C>T) resulting in an arg500-to-stop substitution Arg500Ter (R500X)

text: PAKISTANI

text: proband

text: Homo sapiens

text: East Indian

text: Male

text: Marvel domain-containing protein 2

text: Deafness autosomal recessive 49

text: GM20189 male affected Marveld2 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: ND35689 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hearing loss confirmed by audiometry;product of consanguineous marriage;two affected siblings;father is GM20191;donor subject is homozygous for a splice site mutation: IVS3-1G>A causes the use of a cryptic splice-acceptor site within exon 4 of the MARVELD2 (TRIC) gene which results in the deletion of the first 17 nt of exon 4 and a nonsense mutation (p.C395fsX396)

characteristic: description

text: PAKISTANI

characteristic: ethnicity

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: East Indian

characteristic: race

text: Male

text: Marvel domain-containing protein 2

text: Deafness autosomal recessive 49

text: GM20190 male affected Marveld2 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 90 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: ND35691 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 55 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of three affected children;affected son is GM20190;donor subject is heterozygous for a splice site mutation: IVS3-1G>A causes the use of a cryptic splice-acceptor site within exon 4 of the MARVELD2 (TRIC) gene which results in the deletion of the first 17 nt of exon 4 and a nonsense mutation (p.C395fsX396)

text: PAKISTANI

text: father

text: Homo sapiens

text: East Indian

text: Male

text: Marvel domain-containing protein 2

text: Deafness autosomal recessive 49

text: GM20191 male unaffected Marveld2 sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Homo sapiens

text: Other

text: Male

text: Parkinson disease

text: ND35823 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of three affected children;affected son is GM20193;donor subject is heterozygous for a donor splice site mutation: IVS4+2T>C in the MARVELD2 (TRIC) gene which causes the skipping of exon 4 resulting in a frameshift and premature termination of translation (p.C395fsX403)

characteristic: description

text: PAKISTANI

characteristic: ethnicity

characteristic: family id

text: father

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: East Indian

text: Male

text: Marvel domain-containing protein 2

text: Deafness autosomal recessive 49

text: GM20192 male unaffected Marveld2 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 21 YR

text: Stem cell

text: NINDS Repository

text: same subject as GM02182 (lymphoblastoid cell line) and GM02183 (fibroblast)

text: daughter

text: HD

text: CAG: 33

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Hd gene-positive

text: Asymptomatic

text: ND36997 female unaffected Asymptomatic sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 22 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hearing loss confirmed by audiometry;product of consanguineous marriage;two affected siblings;father is GM20192;donor subject is homozygous for a donor splice site mutation: IVS4+2T>C in the MARVELD2 (TRIC) gene which causes the skipping of exon 4 resulting in a frameshift and premature termination of translation (p.C395fsX403)

text: PAKISTANI

text: proband

text: Homo sapiens

text: East Indian

text: Male

characteristic: tag

text: Marvel domain-containing protein 2

text: Deafness autosomal recessive 49

text: GM20193 male affected Marveld2 sample


text: Coriell

text: live

text: Generic

text: Huntington disease

text: 29 YR

characteristic: cell line

text: Stem cell

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: same subject as GM03620 (lymphoblastoid cell line);GM03621 (fibroblast);and NA03621 (cell culture derived DNA)

characteristic: description

text: daughter

text: HD

text: CAG: 60

text: Homo sapiens

text: Caucasian

text: Female

text: Huntington disease

text: HD

text: ND36998 female affected Huntington disease sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal mother of two affected children;affected daughter is GM20197;donor subject is heterozygous for a donor splice site mutation: IVS4+2T>C in the MARVELD2 (TRIC) gene which causes the skipping of exon 4 resulting in a frameshift and premature termination of translation (p.C395fsX403)

text: PAKISTANI

characteristic: ethnicity

characteristic: family id

text: mother

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: East Indian

text: Female

text: Marvel domain-containing protein 2

text: Deafness autosomal recessive 49

text: GM20196 female unaffected Marveld2 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: PD

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND01754

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01753 female affected PD sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 13 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hearing loss confirmed by audiometry;product of consanguineous marriage;mother is GM20196;donor subject is homozygous for a donor splice site mutation: IVS4+2T>C in the MARVELD2 (TRIC) gene which causes the skipping of exon 4 resulting in a frameshift and premature termination of translation (p.C395fsX403)

text: PAKISTANI

text: proband

text: Homo sapiens

text: East Indian

text: Female

characteristic: tag

text: Marvel domain-containing protein 2

text: Deafness autosomal recessive 49

text: GM20197 female affected Marveld2 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 72 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND01753

characteristic: description

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Neurologically normal caucasian control update of plate ndpt008

text: Population/convenience control

text: Ndpt079 neurologically normal caucasion control

text: Neurologically normal caucasian control panel

text: ND01754 male unaffected Population/convenience control sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: HGF

text: 18 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;hearing loss confirmed by audiometry;product of consanguineous marriage;one affected sister;father is GM20199;donor subject is homozygous for a 3 bp deletion at nucleotide 1986 in intron 4 of the HGF gene (1986delTGA) predicted to encode 24 additional amino acids before encountering a stop codon

text: PAKISTANI

characteristic: ethnicity

characteristic: family id

text: proband

text: HGF

characteristic: gene

characteristic: karyotype

text: 3-BP DEL

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: East Indian

text: Male

text: Hepatocyte growth factor

text: HGF

text: Deafness autosomal recessive 39

text: GM20198 male affected HGF sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01760

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: PD

text: Parkinson disease

text: ND01759 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 65 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically normal father of two affected children;affected son is GM20198;donor subject is heterozygous for a 3 bp deletion at nucleotide 1986 in intron 4 of the HGF gene (1986delTGA) predicted to encode 24 additional amino acids before encountering a stop codon

text: PAKISTANI

text: father

text: HGF

text: 3-BP DEL

text: Homo sapiens

text: East Indian

text: Male

characteristic: tag

text: Hepatocyte growth factor

text: HGF

text: Deafness autosomal recessive 39

text: GM20199 male unaffected HGF sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01759

characteristic: description

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND01760 female unaffected Control sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: 4 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Severe seizure disorder;profound cognitive impairment;not autistic on ADI-R (PDD-NOS);mental age based on Mullen was 4 months at 45 months chronological age;deceased at 9 yr 11 mo of age

text: 47;XY;+idic(15)(pter>q13::q13>pter).ish idic(15)(D15Z1++;D15S11++;GABRB3++)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Isodicentric chromosome

text: GM20200 male unaffected Isodicentric chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Intracranial aneurysm - unruptured

text: ND01763 male affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 7 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Autism or ADI-R;moderate mental retardation

text: 47;XX;+idic(15)(pter>q13::q13>pter).ish idic(15)(D15Z1++;D15S11++;GABRB3++)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Autistic disorder

text: Isodicentric chromosome

text: Copy number variation (cnv) refernece panel 02

text: GM20201 female unaffected Autistic disorder sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 66 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND01764 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Langer mesomelic dysplasia

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;anthropometric measurements at age 35.2 years: height = 122.1 cm;height SD score = -6.8;upper to lower segment ratio = 2.1;upper to lower segment z-score = 38.7;arm span = 96.3 cm;arm span z-score = -8.7;right tibial length z-score = -7.8;right radial length z-score = -7.4;fourth metacarpal z-score = -1.7;menarche at age 11;high arched palate;normal fingernails;no scoliosis;mild increased carrying angle;severe mesomelia;marked ulnar hypoplasia;hypoplastic fibulae;severe Madelung wrist deformity;fused epiphyses;parents had classic Leri-Weill dyschondrosteosis;sibling;GM20213;affected with Langer mesomelic dysplasia;subject has daughter with Leri-Weill dyschondrosteosis and hypochondroplasia and a son with Leri-Weill dyschondrosteosis;donor subject is heterozygous for a complete deletion of one SHOX allele and coding region mutations in the other SHOX allele were not detected. Exon duplications or deletions were not ruled out;apart from the deletions detected by FISH with a SHOX cosmid.

characteristic: description

characteristic: family id

text: proband

text: SHOX

characteristic: gene

text: DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Langer mesomelic dysplasia

text: Short stature homeobox

text: SHOX

text: GM20212 female affected Langer mesomelic dysplasia sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND01773 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Langer mesomelic dysplasia

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;anthropometric measurements at age 33.1 years: height = 134.4 cm;height SD score = -6.2;upper to lower segment ratio = 1.5;upper to lower segment z-score = 20.2;arm span = 108.4 cm;arm span z-score = -8.6;right tibial length z-score = -4.3;right radial length z-score = -6.5;fourth metacarpal z-score = -3.3;high arched palate;normal fingernails;no scoliosis;mild increased carrying angle;severe mesomelia;marked ulnar hypoplasia;hypoplastic fibulae;severe Madelung wrist deformity;fused epiphyses;parents had classic Leri-Weill dyschondrosteosis;sibling;GM20212;affected with Langer mesomelic dysplasia;subject has a son with Leri-Weill dyschondrosteosis and a daughter with Leri-Weill dyschondrosteosis and achondroplasia;donor subject is heterozygous for a complete deletion of one SHOX allele and coding region mutations in the other SHOX allele were not detected. Exon duplications or deletions were not ruled out;apart from the deletions detected by FISH with a SHOX cosmid.

text: brother

text: SHOX

text: DEL

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Langer mesomelic dysplasia

text: Short stature homeobox

text: SHOX

text: GM20213 male affected Langer mesomelic dysplasia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 37 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND01774 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Langer mesomelic dysplasia

text: 84 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;anthropometric measurements at age 84.9 years: height = 130 cm;height SD score = -5.5;upper to lower segment ratio = 1.3;upper to lower segment z-score = 13.7;arm span = 105.3 cm;arm span z-score = -7.9;right tibial length z-score = -5.7;right radial length z-score = -6.3;fourth metacarpal z-score = -2.3;menarche at age 13 years;high arched palate;normal fingernails;no scoliosis;marked increased carrying angle;severe mesomelia;marked ulnar hypoplasia;hypoplastic fibulae;severe Madelung wrist deformity;fused epiphyses;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 457 in exon 3 of the SHOX gene 457C>T resulting in a substitution of cysteine for arginine at codon 153 Arg153Cys (R153C) and a second allele has a G>T transversion at nucleotide 487 in exon 4 of the SHOX gene 487G>T resulting in a substitution of phenylalanine for valine at codon 163 Val163Phe (V163F);subject's mother reportedly had short stature (152 cm) and short arms and father reportedly had normal stature (178 cm) and short arms.

characteristic: description

text: SHOX

text: Homo sapiens

text: Caucasian

text: Female

text: Langer mesomelic dysplasia

characteristic: tag

text: Short stature homeobox

text: SHOX

text: GM20214 female affected Langer mesomelic dysplasia sample


text: Coriell

text: live

text: Generic

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND01775 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND01776 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Langer mesomelic dysplasia

text: 65 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;anthropometric measurements at age 65.3 years: height = 127.7 cm;height SD score = -7.2;upper to lower segment ratio = 1.8;upper to lower segment z-score = 30.3;arm span = 106.2 cm;arm span z-score = -9.2;right tibial length z-score = -8.0;right radial length z-score = -5.3;fourth metacarpal z-score = 0.9;high arched palate;normal fingernails;no scoliosis;mild increased carrying angle;severe mesomelia;marked ulnar hypoplasia;hypoplastic fibulae;severe Madelung wrist deformity;fused epiphyses;subject's parents reportedly had short stature (both 157 cm);sister affected with Leri-Weill dyschondrosteosis;donor subject is hemizygous or homozygous for a 1-bp insertion of a C;ins723C;in exon 6a of the SHOX gene resulting in a frameshift that replaces the carboxy terminus with 50 novel amino acids;subject has no wildtype SHOX exon 6a. Exon duplications or deletions were not ruled out;apart from the deletions detected by FISH with a SHOX cosmid.

text: SHOX

characteristic: gene

text: 1-BP INS

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Langer mesomelic dysplasia

text: Short stature homeobox

text: SHOX

text: GM20215 male affected Langer mesomelic dysplasia sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: PD

text: 83 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter is ND01787

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Essential tremor-movement disorder

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01786 female affected PD sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 57 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND01786

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND01787 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Langer mesomelic dysplasia

text: 7 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;anthropometric measurements at age 7.3 years: height = 93.5 cm;height SD score = -5.5;upper to lower segment ratio = 1.8;upper to lower segment z-score = 14.8;arm span = 72.0 cm;arm span z-score = -8.5;right tibial length z-score = -2.5;right radial length z-score = -6.5;fourth metacarpal z-score = -0.9;high arched palate;normal fingernails;no scoliosis;marked increased carrying angle;severe mesomelia;marked ulnar hypoplasia;hypoplastic fibulae;early radiographic signs of Madelung wrist deformity were present;bone age was 6.8 years at chronological age of 7.3 years;donor subject is a compound heterozygote: one allele has a complete deletion of one SHOX gene and a second allele has a 2-bp insertion;ins350AG;in exon 3 of the SHOX gene causing a frameshift that truncates the predicted SHOX protein after the first 13 amino acids of the homeodomain 130X;subject's mother had Leri-Weill dyschondrosteosis and was heterozygous for the SHOX gene deletion;subject's father had borderline short stature (height -1.6 SD) and short legs and was heterozygous for the ins350AG mutation;clinically normal 6 month old sister had neither the SHOX deletion nor the ins350AG mutation.

characteristic: description

text: SHOX

text: DEL

text: Homo sapiens

text: Caucasian

text: Female

text: Langer mesomelic dysplasia

characteristic: tag

text: Short stature homeobox

text: SHOX

text: GM20216 female affected Langer mesomelic dysplasia sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: PD

text: 79 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND01789

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Late onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND01788 female affected PD sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: 88 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND01788

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND01789 male unaffected Control panel for late onset parkinsons: unaffected individuals sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Langer mesomelic dysplasia

text: 50 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;anthropometric measurements at age 50 years: height = 146.7 cm;weight = 117 lbs;head circumference = 57.8 cm;curvature of forearms noted at birth;increased carrying angle;Madelung's wrist deformity;hydrocele repair;bilateral osteotomies on femurs and derotation of hips for treatment of in toeing during childhood;attention-deficit disorder diagnosed in adulthood;acid reflux;donor subject is a compound heterozygote: one allele has a complete deletion of one SHOX gene and a second allele has a deletion of DXYS233. Exon duplications or deletions were not ruled out;apart from the deletions detected by FISH with a SHOX cosmid.

text: SHOX

characteristic: gene

text: DEL

characteristic: mutation

text: del DXYS233

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Langer mesomelic dysplasia

text: Short stature homeobox

text: SHOX

text: GM20217 male affected Langer mesomelic dysplasia sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 52 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Father of two unaffected sons;ND01791 and ND01805

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Young onset parkinsons dna panel: affected individuals

text: PD

text: Parkinson disease

text: ND01790 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Affected father is ND01790;unaffected brother is ND01805

characteristic: description

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: ND01791 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Langer mesomelic dysplasia

text: 8 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;anthropometric measurements at age 8 months: height = 57.5 cm;weight = 5.88 kg;head circumference = 45.2 cm;birth length 17 3/4 inches;developmentally normal at 8 months of age;severe shortening of forearms with ulnar deviation;decreased extension of the third and fourth fingers of each hand;mild tibial bowing;unusual foreshortening of the forearms and lower legs;mild micrognathia;elevated 17-hydroxyprogesterone on newborn screen;diagnosis of non-classic 21-hydroxylase deficiency made in newborn period;no ambiguous genitalia;donor subject is homozygous for a deletion of the SHOX allele. Exon duplications or deletions were not ruled out;apart from the deletions detected by FISH with a SHOX cosmid.

text: SHOX

text: DEL

text: Homo sapiens

text: Caucasian

text: Female

text: Langer mesomelic dysplasia

text: Short stature homeobox

text: SHOX

text: GM20218 female affected Langer mesomelic dysplasia sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: 1st Degree Relative

text: Homo sapiens

characteristic: organism

text: More than one race

text: Female

text: ND01794 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Duplicated chromosome

text: 2 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Developmental delay;autistic features;but does not meet criteria for autism on ADI-R

text: 46;XY;dup(15)(pter>q13::q11.2>qter).ish dup(15)(D15Z1++;D15S11++;GABRB3++)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Duplicated chromosome

text: GM20220 male affected Duplicated chromosome sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 51 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND01798 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;donor subject has CGG repeat size of 53 in 1 allele in the 5 prime untranslated region (UTR) of the FMR1 gene;CGG repeat size was determined by testing in 9 independent laboratories using two methods each

characteristic: description

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

characteristic: tag

text: Fragile x mental retardation syndrome

text: GM20230 male unaffected Fmr1 gene sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Parkinson disease

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01800

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

text: PD

text: Parkinson disease

text: ND01799 male affected Parkinson disease sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 36 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;Donor subject has CGG repeat size of 76 in 1 allele in the 5 prime untranslated region (UTR) of the FMR1 gene;CGG repeat size was determined by testing in 9 independent laboratories using two methods each

text: (CGG)n EXPANSION

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM20231 male unaffected Fmr1 gene sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01799. Diag is

characteristic: family id

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND01800 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 51 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;donor subject has CGG repeat size of 46 in 1 allele in the 5 prime untranslated region (UTR) of the FMR1 gene;CGG repeat size was determined by testing in 9 independent laboratories using two methods each

characteristic: description

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM20232 male unaffected Fmr1 gene sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01803;unaffected daughter is ND01802

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

characteristic: tag

text: ND01801 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 53 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;probable fragile X tremor/ataxia syndrome (FXTAS);donor subject has CGG repeat size of 117 in 1 allele in the 5 prime untranslated region (UTR) of the FMR1 gene;CGG repeat size was determined by testing in 9 independent laboratories using two methods each;only one method provided a consensus

text: (CGG)n EXPANSION

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM20233 male unaffected Fmr1 gene sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 50 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected daughter of affected father (ND01803) and unaffected mother (ND01801)

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND01802 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;donor subject has CGG repeat sizes of 31 in allele 1 and 46 in allele 2 in the 5 prime untranslated region (UTR) of the FMR1 gene;CGG repeat size was determined by testing in 9 independent laboratories using two methods each

characteristic: description

characteristic: gene

text: (CGG)n EXPANSION

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM20234 female unaffected Fmr1 gene sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 18 YR

text: B-Lymphocyte

text: NINDS Repository

text: Affected father is ND01790;unaffected brother is ND01791

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: ND01805 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 31 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject has CGG repeat sizes of 29 in allele 1 and 45 in allele 2 in the 5 prime untranslated region (UTR) of the FMR1 gene;CGG repeat size was determined by testing in 9 independent laboratories using two methods each

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Black

text: Female

text: Fmr1 gene

characteristic: tag

text: Fragile x mental retardation syndrome

text: GM20235 female unaffected Fmr1 gene sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 35 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Mother of an affected daughter not in the NINDS collection;unaffected spouse is ND01807

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND01806 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;donor subject has CGG repeat sizes of 31 in allele 1 and 53 in allele 2 in the 5 prime untranslated region (UTR) of the FMR1 gene;CGG repeat size was determined by testing in 9 independent laboratories using two methods each

characteristic: description

text: (CGG)n EXPANSION

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM20236 female unaffected Fmr1 gene sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: Father of an affected daughter not in the NINDS collection;unaffected spouse is ND01806

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND01807 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject has CGG repeat size of between 100-104 in 1 allele in the 5 prime untranslated region (UTR) of the FMR1 gene;CGG repeat size was determined by testing in 9 independent laboratories using two methods each;neither method provided a consensus

characteristic: gene

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM20237 male unaffected Fmr1 gene sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 56 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

characteristic: tag

text: Intracranial aneurysm - unruptured

text: ND01809 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 44 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject has CGG repeat sizes of 29 in allele 1 and 30 in allele 2 in the 5 prime untranslated region (UTR) of the FMR1 gene;CGG repeat size was determined by testing in 9 independent laboratories using two methods each

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM20238 female unaffected Fmr1 gene sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 86 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: ND01810 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;full mutation;donor subject has CGG repeat sizes of 20 in allele 1 and between 183-193 in allele 2 in the 5 prime untranslated region (UTR) of the FMR1 gene;CGG repeat size was determined by testing in 9 independent laboratories using two methods each;neither method provided a consensus on allele two

characteristic: description

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM20239 female unaffected Fmr1 gene sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Epilepsy

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND01812

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy

text: ND01811 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 38 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject has CGG repeat sizes of 30 in allele 1 and 80 in allele 2 in the 5 prime untranslated region (UTR) of the FMR1 gene;CGG repeat size was determined by testing in 9 independent laboratories using two methods each

characteristic: gene

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Fmr1 gene

characteristic: tag

text: Fragile x mental retardation syndrome

text: GM20240 female unaffected Fmr1 gene sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 68 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected mother of ND01811

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND01812 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;donor subject has CGG repeat sizes of 29 in allele 1 and between 93-110 in allele 2 in the 5 prime untranslated region (UTR) of the FMR1 gene;CGG repeat size was determined by testing in 9 independent laboratories using two methods each;neither method provided a consensus on allele two

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM20241 female unaffected Fmr1 gene sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: niece

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND01813 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 30 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject has CGG repeat sizes of 30 in allele 1 and 73 in allele 2 in the 5 prime untranslated region (UTR) of the FMR1 gene;CGG repeat size was determined by testing in 9 independent laboratories using two methods each

characteristic: description

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

text: Female

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM20242 female unaffected Fmr1 gene sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 24 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND01814 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 24 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject has CGG repeat sizes of 29 in allele 1 and 41 in allele 2 in the 5 prime untranslated region (UTR) of the FMR1 gene;CGG repeat size was determined by testing in 9 independent laboratories using two methods each

characteristic: gene

text: (CGG)n EXPANSION

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM20243 female unaffected Fmr1 gene sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: paternal first cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND01815 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 43 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject has a CGG repeat size of 41 in 1 allele in the 5 prime untranslated region (UTR) of the FMR1 gene;CGG repeat size was determined by testing in 9 independent laboratories using two methods each

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM20244 male unaffected Fmr1 gene sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 51 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: paternal second cousin

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: Subarachnoid hemorrhage, caucasian from north america

text: ND01816 male affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Hypophosphatemic rickets

text: 32 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;short stature;vitamin D resistant hypophosphatemic rickets;craniosynostosis;chiari malformation;multiple skeletal abnormalities;other affected family members include subject's son;mother;half-sister and her two sons;affected son is GM20255.

characteristic: description

text: AFRICAN-AMERICAN

characteristic: ethnicity

characteristic: family id

text: proband

text: Homo sapiens

text: Black

text: Female

text: X-linked dominant

characteristic: tag

text: Hypophosphatemic rickets

text: GM20254 female affected Hypophosphatemic rickets sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

characteristic: organism

text: African American

text: Female

text: Subarachnoid hemorrhage

text: ND01819 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: PHEX

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;born full term;birth weight 3500 g;macrocephaly and craniosynostosis noted at age 5 months;hydrocephalus and Chiari I malformation diagnosed at age 5 months via MRI;diagnosed with X-linked dominant hypophosphatemic rickets at age 2 years;medication was discontinued at age 7 years;cognitive developmental delay;multiple carious teeth;conductive hearing loss;delayed bone age;at age 8 years an exam revealed: height = 103.3 cm (<5%);weight = 21.7 kg (5%);head circumference = 52.5 cm (50%);turribrachycephaly;frontal bossing;malar flattening;exophthalmos;waddling gait;anterior bowing of distal radii;flexion contractures of elbows;bowing of femora and tibia;notching of inner maleolus;synostosis of all sutures and significant signs of intracranial pressure noted via 3D CAT scan;nephrocalcinosis noted via renal ultrasound;skeletal survey noted the following: ricketic changes;osteomalacia;diffuse metaphyseal fraying and cupping and widening of the physis;generalized platyspondyly and mild endplate sclerosis;pars interarticularis fractures and L4-L5 retrolisthesis;normal calcium and PTH levels;elevated alkaline phosphatase and depressed phosphate;donor subject is hemizygous for a T>G transversion at nucleotide 1949 (1949T>G) in exon 19 of the PHEX gene resulting in a substitution of arginine for leucine at codon 650 Leu650Arg (L650R);other affected family members include mother;maternal grandmother;maternal half-aunt and her two sons;affected mother is GM20254.

text: AFRICAN-AMERICAN

text: son

text: PHEX

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

characteristic: race

text: Male

text: X-linked

text: Hypophosphatemic rickets, x-linked dominant

text: PHEX

text: Phosphate-regulating endopeptidase homolog

text: GM20255 male affected PHEX sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 69 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: first cousin once removed

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND01820 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Non-hodgkins lymphoma

text: 65 YR

text: Tumor-derived cell line

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Cell line SKI-DLCL-1 was established from a donor diagnosed with recurrent mantle cell lymphoma;ascitic fluid was removed from the donor and mononuclear cells were seeded at various cell concentrations in six-well plates. After four weeks the cells started to grow in suspension. This line had cells identical in morphology to the cells isolated at diagnosis. These cells have a high nuclear-cytoplasmic ratio with prominent nucleoli and numerous vacuoles. They demonstrate a profile of a mature B-cell phenotype identical to the original tumor: sIgM+;CD45+;CD10+;CD19+;CD20+;CD23+;CD3-;and CD5-.

characteristic: description

text: 48~50;XXYY;t(1;14)(q21;q32);der(2)t(2;3;10);der(6)t(6;16;18);der(7)t(7;15);del(8)(p?);-10;dup(11);+13;der(15)t(15;18)(p11.2;q11.2);der(17)t(8;17)(q13;q25);-18;+2~7mar cp25

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: Non-hodgkins lymphoma

text: GM20259 male affected Non-hodgkins lymphoma sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: tag

text: Intracranial aneurysm - unruptured

text: ND01821 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;pregnancy complicated by maternal HELLP syndrome;subject born at 37 weeks gestation;hypothermia;hypoglycemia;LCHAD = 8.5 (normal 57.3 +/- 14.9);donor subject is homozygous for a G>C transversion at nucleotide 1528 in exon 15 of the HADHA gene 1528G>C resulting in a substitution of glutamine for glutamic acid at codon 474 Glu474Gln (E474Q) .

text: HADHA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: HADHA

text: LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY

text: GM20266 female affected HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 60 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND01839

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

text: ND01840 male unaffected Neurologically normal caucasian control panel sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Gaucher disease type ii

text: 4 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;donor subject is a compound heterozygote: one allele has a T>C transition at nucleotide 1448 in exon 10 of the GBA gene 1448T>C resulting in a substitution of proline for leucine at codon 444 Leu444Pro (L444P) and a second allele has a splice site mutation in intron 2 of the GBA gene (IVS2+1G>A)

characteristic: description

text: FILIPINO/AFRICAN

characteristic: ethnicity

text: GBA

text: G>A

text: Homo sapiens

text: Other

text: Female

text: GBA

text: Glucosidase acid beta

text: Gaucher disease type ii

text: GM20270 female affected Gaucher disease type ii sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 8 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND01842

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

characteristic: tag

text: Epilepsy

text: ND01841 female affected Epilepsy sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Gaucher disease type ii

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;fetal hydrops;hepatosplenomegaly noted prenatally;abnormal fetal movements in utero;congenital ichthyosis;infant died within 2 hours of birth;autopsy revealed colloidin-type skin;ectropia of eyes;flattened nose;absent palmar and distal pharyngeal flexure creases;flexion deformities of the left fifth finger and knee;low-set ears;hypoplastic nails and digits;massive hepatosplenomegaly;bilateral eventration of the diaphragm;ventricular septal defect;and biventricular hypertrophy;neonatal blood testing revealed thrombocytopenia;markedly raised white cell count;raised alkaline phosphatase;raised lactate and pyruvate;biopsies from all organs showed infiltration with cells characteristic of Gaucher's;leucocyte B-glucocerebrosidase activity was markedly deficient;donor subject is homozygous for a recombinant allele due to a crossover at the end of exon 9 or the beginning of intron 9 between the GBA gene and its pseudogene.

text: LEBANESE

text: GBA

characteristic: gene

text: RECOMBINANT (EXON 9)

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: GBA

text: Glucosidase acid beta

text: Gaucher disease type ii

text: GM20273 male affected Gaucher disease type ii sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 43 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND01841

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND01842 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 2 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;according to mother the child has been diagnosed with the following: autism-spectrum disorder;obsessive-compulsive disorder;attention-deficit disorder;IQ approximately 45;no seizure disorder;mother is GM20305.

characteristic: description

text: proband

text: 46;XY;dup(15)(pter>q12::q11.2>qter).ish dup(15)(D15Z1+;RP11-142b22 amp;D15S11+;GABRB3+)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Duplicated chromosome

text: GM20304 male unaffected Duplicated chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: brother

text: Homo sapiens

characteristic: organism

text: More than one race

text: Male

characteristic: tag

text: ND01846 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mother of GM20304

text: mother

text: 46;XX;dup(15)(pter>q12::q11.2>qter).ish dup(15)(D15Z1+;RP11-142b22 amp;D15S11+;GABRB3+)mat

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Duplicated chromosome

text: GM20305 female unaffected Duplicated chromosome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 60 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND01848 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Glucosidase acid alpha

text: 5 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;generalized hypotonia;hepatomegaly;macroglossia;massive cardiomegaly on x-ray;residual acid maltase activity absent in muscle;neutral maltase activity normal;elevated muscle glycogen;donor subject is homozygous for a 9-kb deletion extending from IVS15 to 4kb downstream of the terminal exon (exon 20) IVS15>3' of exon 20 .

text: BANGLADESHAN

characteristic: ethnicity

text: GAA

characteristic: gene

text: 9-KB DEL IVS15>3 prime end of exon 20

characteristic: mutation

text: Homo sapiens

text: East Indian

text: Female

text: Glucosidase acid alpha

text: GAA

text: Glycogen storage disease ii

text: GM20310 female affected Glucosidase acid alpha sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm unruptured: caucasian

text: Intracranial aneurysm - unruptured

text: ND01849 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 11 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with classic bladder exstrophy;no other congenital anomalies;no developmental delay;de novo reciprocal chromosome translocation present in subject;chromosome 9q13 breakpoint disrupts the 5' region of CNTNAP3.

characteristic: description

text: 46;XY;t(8;9)(8qter>8p11.2::9q13>9qter;9pter>9q13::8p11.2>8pter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Translocated chromosome

characteristic: tag

text: GM20311 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 64 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: brother

text: Homo sapiens

text: More than one race

characteristic: race

text: Male

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND01850 male affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Insulin receptor

text: 2 MO

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;birth weight 1;590 g at 42 weeks gestation (<5th percentile);hirsutism;acanthosis nigricans;peripheral edema;thickened lips;prominent nipples;disproportionately large genitalia;heart murmur;developmental delay;failure to thrive;severe constipation;recurrent upper respiratory tract infections;died at 26 months;autopsy revealed: severe pulmonary hypertension;moderate concentric bilateral hypertrophy of heart;focal areas of proliferation of bile ducts;and hepatocytes contained PAS positive granules;fasting hypoglycemia and postprandial hyperglycemia with elevated levels of circulating insulin (1;200 uU/ml) noted in neonatal period;specific binding of insulin (to fibroblasts) = 0.02 +/- 0.02 (fmol/mg cell protein) with normal range being 1.01 - 2.20;donor subject is a compound heterozygote: one allele has an in-frame deletion of three nucleotides resulting in the deletion of codon 281 in exon 3 of the INSR gene del c.1159-1161;N281 and a second allele has a G>A transition in the first nucleotide of the splice-donor junction in intron 13 of the INSR gene resulting in an in-frame deletion of amino acids 859-867 IVS 13+1;G>A .

text: INSR

characteristic: gene

text: G>A

characteristic: mutation

text: 3-BP DEL (N281)

text: Homo sapiens

text: Caucasian

text: Male

text: INSR

text: Insulin receptor

text: Leprechaunism

text: GM20328 male affected Insulin receptor sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected mother is ND01854

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND01853 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 27 MO

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Testing (Bayley) showed mental age of 11 months;autism on ADI-R;seizures

text: 47;XY;+idic(15)(pter>q13::q13>pter).ish idic(15)(D15Z1++;D15S11++;GABRB3++)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Isodicentric chromosome

characteristic: tag

text: GM20366 male unaffected Isodicentric chromosome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 34 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother of ND01853

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND01854 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Acute lymphocytic leukemia

text: 4 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected with pre-B acute lymphoblastic leukemia;donor subject suffered from general fatigue and anemia at age 3 years;bone-marrow examination at age 3 years showed 99% of blasts with French-American-British L1 morphology and pre-B-cell phenotype carrying a t(1;19)(q23;p13) translocation;early bone-marrow relapse occurred despite aggressive multidrug-combined chemotherapy;donor subject died from a fungal infection less than one year after diagnosis;cell line established from donor subject's peripheral blood at relapse;cells had basophilic cytoplasm with prominent vacuoles and oval nuclei with one or more prominent nuceoli;cells were negative for peroxidase;PAS;alpha-naphthyl butyrate esterase;and naphthol ASD chloroacetate esterase activities;cells expressed CD19;CD22;HLA-DR;and CD34 antigens but were negative for CD3;CD4;CD8;CD10;CD20;CD33;and surface immunoglobulins;cells harbored cIg and a rearranged Ig heavy-chain gene;cell line had neither E2A rearrangement nor PBX1 expression;cell line had no E2A/PBX1 chimeric transcripts;cloned breakpoints of cell line fell within introns of MEF2D and DAZAP1;the chimeric transcripts MEF2D-DAZAP1 and DAZAP1-MEF2D;whose sequences indicated in-frame fusions between MEF2D and DAZAP1;were expressed in the cell line and in bone-marrow cells from the donor subject.

text: 46;X;der(X)t(X;15)(p21;q11.2);der(X;15);t(1;19)(q23;p13);der(2)t(2;22)(q35;q11.2);t(3;5)(q21;q11.2);der(4)t(4;21)(

text: Homo sapiens

text: Asian

text: Female

text: Translocated chromosome

text: Acute lymphocytic leukemia

text: GM20390 female affected Acute lymphocytic leukemia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Epilepsy

text: 13 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND01857 female affected Epilepsy sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject is heterozygous for a C>T transition at nucleotide 3241 in exon 20 of the POLG gene (c.3241C>T) resulting in a stop at codon 1081 Arg1081Ter (R1081X);son died at one year of age with clinical picture of Alpers syndrome with mitochondrial depletion and COX deficiency;spouse is GM20400;proband not in Repository.

characteristic: description

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: parent

text: POLG

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Female

text: Polymerase, dna, gamma

text: POLG

text: GM20399 female unaffected Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 35 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: ND01858 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 36 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;donor subject is heterozygous for a G>A transition at nucleotide 1399 in exon 7 of the POLG gene (c.1399G>A) resulting in the substitution of threonine for alanine at codon 467 Ala467Thr (A467T);son died at one year of age with clinical picture of Alpers syndrome with mitochondrial depletion and COX deficiency;spouse is GM20399;proband not in Repository.

text: AFRICAN-AMERICAN

text: parent

text: POLG

text: Homo sapiens

text: Black

text: Male

characteristic: sex

text: Polymerase, dna, gamma

text: POLG

text: GM20400 male unaffected Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 11 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND01859 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Chromosome deletion

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;failure to thrive as neonate;obesity;hypogonadism;mild mental retardation;paternal deletion of 15q11-q13;DNA methylation results: DN34;PW71;and SNRPN consistent with Prader-Willi syndrome.

characteristic: description

text: 46;XY;del(15)(pter>q11::q13>qter)pat.ish del(15)(D15Z1+;SNRPN-;PML+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

text: PWS

text: Prader-willi syndrome

text: GM20406 male affected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 6 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected mother is ND01866

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND01865 female affected Epilepsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: Complete maternal uniparental disomy

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;failure to thrive as neonate;obesity;mild mental retardation;short stature;hypogonadism;obsessive-compulsive disorder;microsatellite testing indicated maternal uniparental disomy;DNA methylation results: DN34;PW71;and SNRPN consistent with Prader-Willi syndrome.

text: 46;XX. ish 15p11.1(D15Z1x2);15q11.2>15q13( D15S10/UBE x2);15q22(PMLx2)

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Complete maternal uniparental disomy

characteristic: tag

text: PWS

text: Prader-willi syndrome

text: GM20408 female affected Complete maternal uniparental disomy sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Epilepsy

text: 41 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Affected daughter is ND01865

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Epilepsy generalized: caucasian

text: Epilepsy

text: ND01866 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Angelman syndrome

text: 6 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;no speech;ataxic gait;severe mental retardation;inappropriately happy affect;46;XY;inv(9)(p11q13);microsatellite testing indicated paternal uniparental disomy;DNA methylation results: DN34;PW71;and SNRPN consistent with Angelman syndrome.

text: 46;XY;inv(9)(pter>p11::q13>p11::q13>qter).ish 15p11.1(D15Z1x2);15q11.2>15q13( D15S10/UBE x2);15q22(PMLx2)

text: Homo sapiens

text: Caucasian

text: Male

text: AS

text: Angelman syndrome

text: Complete paternal uniparental disomy

text: GM20409 male affected Angelman syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND01872 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Molybdenum cofactor deficiency

text: 4 MO

characteristic: age

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;diagnosed in neonatal period;myoclonic seizures developed at age 3 months;occasional myoclonus;global developmental delays;primitive reflexes including stepping gait and exaggerated startle response;fencing posture;normal eye exam;plagiocephaly;undescended testicle on left;at age 5 1/2 months height was 67 cm (75th percentile);weight was 6.6 kg (15th percentile);head circumference was 40.5 cm (30-40th percentile) which has dropped from 60th percentile;at age 6 months there was head lag and very poor head control;no rolling;no purposeful grabbing movements;no visual focusing on objects;no coordination of visual stimuli with purposeful movements;and no response to sound or light stimuli;reflexes 3+ for all extremities and symmetric at age 6 months;EEG showed generalized spikes but no hypsarrhythmia;no sulfite oxidase activity detectable by enzyme determination;S-sulfocysteine assay showed 1598 micromol/g creatinine (normal <24 micromol/g creatinine);urine oxypurines: creatinine = 2.3 mmol/L;uric = 0.830 mmol/mol Cr (normal range 0.33-2);hypoxanthine = 0.121 mmol/mol Cr (normal range 0.01-0.11);xanthine = 0.951 mmol/mol Cr (normal range 0.01-0.09);oxipurinol = 0.000 mmol/mol Cr (normal range 0-0);and AICAR = 0.000 mmol/mol Cr (normal range 0-0).

characteristic: description

text: CAUCASIAN/OTHER

characteristic: ethnicity

text: Homo sapiens

text: More than one race

text: Male

text: Molybdenum cofactor deficiency

text: GM20415 male affected Molybdenum cofactor deficiency sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: ND01873 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Isodicentric chromosome

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Mild cognitive impairment;seizures;not autistic by ADI-R

text: 47;XX;+idic(15)(pter>q13::q13>pter).ish idic(15)(D15Z1++;D15S11++;GABRB3++)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Isodicentric chromosome

characteristic: tag

text: GM20418 female affected Isodicentric chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 68 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: brother

text: Homo sapiens

text: More than one race

text: Male

characteristic: sex

text: ND01875 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Autistic disorder

text: 6 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Attention deficit hyperactivity disorder;autism

text: 47;XY;+idic(15)(pter>q13::q13>pter).ish idic(15)(D15Z1++;D15S11++;GABRB3++)

text: Homo sapiens

text: Caucasian

text: Male

text: Autistic disorder

text: Isodicentric chromosome

text: GM20419 male affected Autistic disorder sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 76 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected daughter is ND01879

characteristic: description

characteristic: family id

text: proband

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: PD

text: Parkinson disease

text: ND01878 female affected Parkinson disease sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Hemoglobin--beta locus

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;sickle/delta beta thalassemia;Greek ancestry;diagnosed at age 4 years;joint and bone pain;splenomegaly causing pain crisis led to splenectomy;multiple transfusions but no need for iron chelation;hydroxyurea started about age 35 years with improvement in joint and bone pain;ocular migraines;transfusion dependent;hemoglobin electrophoresis results: HbA = 0%;HbA2 = 6.3%;HbF = 26.8%;HbS = 63.9%;hemoglobin = 10 g/dl;MCV = 87.7;affected brother is GM20432

text: GREEK

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Sickle cell anemia

text: Hemoglobin--beta locus

text: HBB

text: GM20421 male affected Hemoglobin--beta locus sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 53 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected daughter of ND01878

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND01879 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Participant #1 (hu43860C) in the Personal Genome Project: http://www.personalgenomes.org Matching fibroblast culture from this same subject is GM23248

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Apparently healthy non-fetal tissue

text: Personal genome project

text: GM20431 male unaffected Apparently healthy non-fetal tissue sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 70 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND03765.

characteristic: description

characteristic: family id

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND01880 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Hemoglobin--beta locus

text: 47 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;sickle/delta beta thalassemia;Greek ancestry;poor weight gain and anemia in early childhood;multiple transfusions over lifetime but the need for transfusion significantly declined after splenectomy;history of iron overload due to multiple transfusions;multiple hospitalizations for pain crises;pulmonary hypertension;history of deep vein thrombosis and pulmonary embolism;avascular necrosis;hemoglobin electrophoresis results: HbA = 7.3%;HbA2 = 6.6%;HbF = 21.8%;HbS = 62.7%;hemoglobin = 9.5 g/dl;MCV = 90.2;affected brother is GM20421

text: GREEK

characteristic: ethnicity

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

text: Sickle cell anemia

text: Hemoglobin--beta locus

text: HBB

text: GM20432 male affected Hemoglobin--beta locus sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 62 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01882

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Asian

text: Male

text: PD

characteristic: tag

text: Parkinson disease

text: ND01881 male affected Parkinson disease sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 31 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically healthy;hemoglobin Providence;hemoglobin electrophoresis results: HbA = 41.6%;HbA2 = 2.6%;HbF = 0%;HbS = 0%;Hb Providence = 55.7%;hemoglobin = 14.9 g/dl;MCV = 82;donor subject has a substitution of asparagine for lysine at codon 82 (EF6) of the HBB gene Lys82Asn (K82N);mother is GM20459;sister is GM20460;daughter is GM20462.

text: niece

text: HBB

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Hemoglobin--beta locus

text: HBB

text: GM20458 female unaffected Hemoglobin--beta locus sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01881

characteristic: description

characteristic: family id

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Asian

text: Female

text: Control

text: Population/convenience control

text: ND01882 female unaffected Control sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 49 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically healthy;hemoglobin Providence;hemoglobin electrophoresis results: HbA = 43.9%;HbA2 = 2.8%;HbF = 0%;HbS = 0%;Hb Providence = 53.3%;hemoglobin = 11.2 g/dl;MCV = 94.6;donor subject has a substitution of asparagine for lysine at codon 82 (EF6) of the HBB gene Lys82Asn (K82N);daughters are GM20458;GM20460;sister is GM20461.

text: sister

text: HBB

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Hemoglobin--beta locus

text: HBB

text: GM20459 female unaffected Hemoglobin--beta locus sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 54 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND01884

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Young onset parkinsons panel: caucasian subjects from north america

text: PD

text: Parkinson disease

text: ND01883 male affected Young onset parkinsons panel: affected individuals sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically healthy;hemoglobin Providence;hemoglobin electrophoresis results: HbA = 42.9%;HbA2 = 2.8%;HbF = 0%;HbS = 0%;Hb Providence = 54.3%;hemoglobin = 14.9 g/dl;MCV = 85.2;donor subject has a substitution of asparagine for lysine at codon 82 (EF6) of the HBB gene Lys82Asn (K82N);sister is GM20458;mother is GM20459;daughter is GM20463.

text: niece

text: HBB

text: Homo sapiens

text: Black

text: Female

text: Hemoglobin--beta locus

characteristic: tag

text: HBB

text: GM20460 female unaffected Hemoglobin--beta locus sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 48 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01883

text: spouse

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: ND01884 female unaffected Control sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 56 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically healthy;hemoglobin Providence;history of renal failure;hemoglobin electrophoresis results: HbA = 44.9%;HbA2 = 2.8%;HbF = 0%;HbS = 0%;Hb Providence = 52.3%;hemoglobin = 14.4 g/dl;MCV = 89.7;donor subject has a substitution of asparagine for lysine at codon 82 (EF6) of the HBB gene Lys82Asn (K82N);sister is GM20459.

characteristic: description

characteristic: family id

text: proband

text: HBB

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Female

text: Hemoglobin--beta locus

text: HBB

text: GM20461 female unaffected Hemoglobin--beta locus sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Affected spouse not in NINDS collection

text: WILDTYPE for GLY2019

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND01885 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 1 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically healthy;hemoglobin Providence;hemoglobin electrophoresis results: HbA = 38.3%;HbA2 = 2.7%;HbF = 0%;HbS = 0%;Hb Providence = 58.8%;hemoglobin = 11.7 g/dl;MCV = 64.7;donor subject has a substitution of asparagine for lysine at codon 82 (EF6) of the HBB gene Lys82Asn (K82N);mother is GM20458;maternal grandmother is GM20459.

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: cousin

text: HBB

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Hemoglobin--beta locus

text: HBB

text: GM20462 female unaffected Hemoglobin--beta locus sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse is ND01887

text: proband

text: WILDTYPE for GLY2019

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinsons panel: caucasian from the united states

characteristic: tag

text: PD

text: Parkinson disease

text: ND01886 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 7 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically healthy;hemoglobin Providence;hemoglobin electrophoresis results: HbA = 44.6%;HbA2 = 2.9%;HbF = 0%;HbS = 0%;Hb Providence = 52.5%;hemoglobin = 14.3 g/dl;MCV = 90.3;donor subject has a substitution of asparagine for lysine at codon 82 (EF6) of the HBB gene Lys82Asn (K82N);mother is GM20460;maternal grandmother is GM20459.

characteristic: description

characteristic: family id

text: cousin

text: HBB

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Hemoglobin--beta locus

text: HBB

text: GM20463 female unaffected Hemoglobin--beta locus sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Donor subject tested negative for the G2019S(GLY2019SER) mutation in the LRRK2 gene. Unaffected spouse of ND01886

text: spouse

characteristic: gene

text: WILDTYPE for GLY2019

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND01887 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 34 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;formerly AG04344;congenital cranial nerve palsies (VII and IX or X);short stature;microcephaly;broad;high forehead;beaked nose;high nasal bridge;hypoplastic mid-face (cartilage of tip and nasal alae) with anteverted nares;intact palate;short philtrum and down-turned mouth;small eyes with blepharochalasis;optic nerve pit of the right optic disc;hypoplastic scapulae;humerii;and ulnae with absent radii and metacarpals I and V;absent thumbs;two of the remaining four fingers arose from bifid IVth metacarpals;great toes were short with wide first interdigital space;absent iliac horns and hypoplastic patellae;distal tibiae and fibulae;small vertebrae;thoracic kyphoscoliosis;mild pulmonic valve stenosis;scotoma of right eye;mild mental retardation (IQ = 66);diabetes mellitus diagnosed at age 32 controlled by diet;malignant melanoma of left scapular area of upper back treated surgically only;patient died 3 years after excision of the primary tumor;autopsy revealed widely metastatic melanoma;an older sister has same features with some additional skeletal anomalies (complete fusion of short ulnae with hypoplastic humerii and absent left patella and tibiae);but with no cancer;premature separation of centromeres (PCS) of sister chromatids in leukocytes;EBV virus-transformed lymphoblasts;skin fibroblasts;and metastatic melanoma cells;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 604 in exon 3 of the ESCO2 gene 604C>T resulting in a substitution of a termination signal for glutamine at codon 202 Gln202Ter (Q202X) and a second allele has a single-nucleotide deletion at nucleotide 752 in exon 3 of the ESCO2 gene 752delA resulting in a frameshift with a truncated protein K253fsX12;same donor is GM20467 fibroblast.

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Sc phocomelia syndrome

text: GM20466 female affected Establishment of cohesion 1, s. cervisiae, homolog of 2 sample


characteristic: External Id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected daughter of ND01985

text: daughter

text: Homo sapiens

text: African American

characteristic: race

text: Female

text: ND01888 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 33 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically affected;formerly AG03970;congenital cranial nerve palsies (VII and IX or X);short stature;microcephaly;broad;high forehead;beaked nose;high nasal bridge;hypoplastic mid-face (cartilage of tip and nasal alae) with anteverted nares;intact palate;short philtrum and down-turned mouth;small eyes with blepharochalasis;optic nerve pit of the right optic disc;hypoplastic scapulae;humerii;and ulnae with absent radii and metacarpals I and V;absent thumbs;two of the remaining four fingers arose from bifid IVth metacarpals;great toes were short with wide first interdigital space;absent iliac horns and hypoplastic patellae;distal tibiae and fibulae;small vertebrae;thoracic kyphoscoliosis;mild pulmonic valve stenosis;scotoma of right eye;mild mental retardation (IQ = 66);diabetes mellitus diagnosed at age 32 controlled by diet;malignant melanoma of left scapular area of upper back treated surgically only;patient died 3 years after excision of the primary tumor;autopsy revealed widely metastatic melanoma;an older sister has same features with some additional skeletal anomalies (complete fusion of short ulnae with hypoplastic humerii and absent left patella and tibiae);but with no cancer;premature separation of centromeres (PCS) of sister chromatids in leukocytes;EBV virus-transformed lymphoblasts;skin fibroblasts;and metastatic melanoma cells;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 604 in exon 3 of the ESCO2 gene 604C>T resulting in a substitution of a termination signal for glutamine at codon 202 Gln202Ter (Q202X) and a second allele has a single-nucleotide deletion at nucleotide 752 in exon 3 of the ESCO2 gene 752delA resulting in a frameshift with a truncated protein K253fsX12;same donor as GM20466 lymphocyte.

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Sc phocomelia syndrome

text: GM20467 female affected Establishment of cohesion 1, s. cervisiae, homolog of 2 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND01890 female affected Subarachnoid hemorrhage sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Hemoglobin--beta locus

text: 46 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;beta-thalassemia intermedia;diagnosed at birth;transfusion dependent;iron overload;extramedullary paraspinal hematopoiesis;splenectomy at age 16 years;cholecystectomy;testicular atrophy;hypogonadism;asthma;osteoporosis;adrenal insufficiency;hypothyroidism;hemoglobin electrophoresis results: HbA = 72.2%;HbA2 = 3.8%;HbF = 8%;HbS = 4.3%;hemoglobin = 8.2 g/dl;MCV = 74.8.

text: PALESTINIAN

characteristic: ethnicity

text: Homo sapiens

text: Caucasian

text: Male

text: Hemoglobin--beta locus

text: HBB

text: GM20479 male affected Hemoglobin--beta locus sample