text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 20 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: half-brother

text: Homo sapiens

characteristic: organism

text: Other

text: Male

characteristic: sex

text: Unrelated condition upon exam

text: ND22198 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

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Mevalonate kinase

text: 2 YR

characteristic: age

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Psychomotor retardation;failure to thrive;cataract;dysmorphia;hypotonia;hepatosplenomegaly;2% of control mevalonate kinase activity;passage 2 at CCR;see GM12015 Lymphoid

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Mevalonate kinase

characteristic: tag

text: Mvk mevalonicaciduria included

text: GM12014 male affected Mevalonate kinase sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Other

text: Female

text: Unrelated condition upon exam

text: ND22199 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: Mevalonate kinase

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Psychomotor retardation;failure to thrive;cataract;dysmorphia;hypotonia;hepatosplenomegaly;2% of control mevalonate kinase activity;see GM12014 Fibro

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Mevalonate kinase

text: Mvk mevalonicaciduria included

text: GM12015 male affected Mevalonate kinase sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND22201 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: 14 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Pulmonary artery stenosis;embryotoxon of eye;peculiar facies with prominent frontal bossing;no spinal abnorms;unknown porphyria;'blue nevus syndrome';'renal mesangiolipidosis';cirrhosis;compl absence of hilar bile ducts;46;XX

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Alagille syndrome

text: AGS

text: GM12016 female unaffected Alagille syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 46 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND22202 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 37 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;spouse has typical facies & no other signs of disease;daughter is severely affected

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Alagille syndrome

characteristic: tag

text: AGS

text: GM12018 male unaffected Alagille syndrome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Tourette syndrome

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Tourette syndrome

text: ND22203 male affected Tourette syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 25 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Diaphragm fibroblast culture;anencephaly;fetal demise

text: 46;XY;der(21)t(3;21)(21pter>21q22.3:: 3p21.3>3pter). ish der(21)(AML1+)

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Derivative chromosome

text: Translocated chromosome

text: GM12019 male unaffected Derivative chromosome sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Homo sapiens

text: Caucasian

text: Male

text: Parkinson disease

text: ND22206 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 71 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;5 affected sibs;parents are 1st cousins;normal acetylcholine receptor antibody titer and normal neurological exam

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Myasthenia gravis

text: MG

text: GM12023 female unaffected Myasthenia gravis sample


text: Coriell

text: live

text: Generic

text: Tourette syndrome

text: 13 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND22213 male affected Tourette syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 18q- syndrome;mental retardation;abnormal hands;hypotonia;abnormal genital development;midface hypoplasia;carp-mouth;first-arch abnormalities;abnormal feet;umbilical hernia;19 Mb deletion

characteristic: description

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM12025 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: ND22214 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 82 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: family id

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Myasthenia gravis

text: MG

text: GM12027 female unaffected Myasthenia gravis sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 39 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Tourette syndrome

text: ND22215 male affected Tourette syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1346

text: GM12035 male unaffected Ceph/utah pedigree 1346 sample


text: Coriell

text: live

text: Generic

text: 38 YR

characteristic: age

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND22216 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1346

text: GM12036 male unaffected Ceph/utah pedigree 1346 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Tourette syndrome

characteristic: tag

text: ND22217 female affected Tourette syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: family id

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 1346

text: GM12037 male unaffected Ceph/utah pedigree 1346 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: ND22229 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1346

text: GM12038 male unaffected Ceph/utah pedigree 1346 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 44 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: ND22230 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

text: son

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1346

text: GM12039 male unaffected Ceph/utah pedigree 1346 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 9 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

characteristic: tag

text: ND22231 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Ceph/utah pedigree 1346

text: GM12040 female unaffected Ceph/utah pedigree 1346 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Progressive supranuclear palsy

text: 79 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive supranuclear palsy

text: ND22232 male affected Progressive supranuclear palsy sample


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Daughter

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1346

text: GM12041 female unaffected Ceph/utah pedigree 1346 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 76 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: wife

text: Homo sapiens

text: Caucasian

text: Female

text: ND22233 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1346

characteristic: tag

text: GM12042 female unaffected Ceph/utah pedigree 1346 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 44 YR

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: ND22235 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: Coriell plate

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC first public

characteristic: INSDC secondary accession

text: live

text: Generic

text: Utah Residents (CEPH) with Northern and Western European ancestry

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Paternal Grandfather;donor subject is heterozygous for an A>C change at nucleotide 1061 (1061A>C) in exon 7 of the CYP2C9 gene (CYP2C9*3) which results in a substitution of leucine for isoleucine at codon 359 Ile359Leu (I359L)

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: male

text: Ceph/utah pedigree 1346

text: Coriell GM12043


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 42 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: tag

text: ND22236 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC first public

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission package

characteristic: Population Description

characteristic: SRA accession

text: EUR

text: European

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: paternal grandmother

text: Homo sapiens

characteristic: organism

text: CEU

text: Caucasian

text: female

characteristic: sex

text: Ceph/utah pedigree 1346

text: Coriell GM12044

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 17 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND22237 male affected Tourette syndrome sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC first public

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission package

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Maternal Grandfather

text: UTAH/MORMON

characteristic: family id

text: maternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: male

text: Ceph/utah pedigree 1346

characteristic: tag

text: Coriell GM12045


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 46 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: East Indian

characteristic: ethnicity

text: father

text: Homo sapiens

characteristic: organism

text: Other

text: Male

characteristic: sex

text: ND22244 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample

characteristic: title


characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC first public

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission package

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Maternal Grandmother

characteristic: description

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

text: CEU

text: Caucasian

text: female

text: Ceph/utah pedigree 1346

text: Coriell GM12046


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 40 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: East Indian

characteristic: family id

text: mother

text: Homo sapiens

text: Other

characteristic: race

text: Female

characteristic: tag

text: ND22245 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Ceph/utah pedigree 1344

text: GM12047 female unaffected Ceph/utah pedigree 1344 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Daughter

characteristic: description

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1344

text: GM12048 female unaffected Ceph/utah pedigree 1344 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Tourette syndrome

text: 19 YR

text: B-Lymphocyte

text: NINDS Repository

text: East Indian

text: proband

text: Homo sapiens

text: Other

text: Male

text: Tourette syndrome

text: ND22246 male affected Tourette syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1344

text: GM12049 female unaffected Ceph/utah pedigree 1344 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1344

characteristic: tag

text: GM12050 male unaffected Ceph/utah pedigree 1344 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 54 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND22256 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1344

text: GM12051 male unaffected Ceph/utah pedigree 1344 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1344

text: GM12052 male unaffected Ceph/utah pedigree 1344 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND22262 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1344

text: GM12053 female unaffected Ceph/utah pedigree 1344 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 65 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

characteristic: tag

text: ND22263 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ceph/utah pedigree 1344

text: GM12054 female unaffected Ceph/utah pedigree 1344 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 43 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: NON-HISPANIC

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND22265 male affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1344

text: GM12055 male unaffected Ceph/utah pedigree 1344 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND22276 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission package

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandfather

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Cytochrome p450, subfamily iic, polypeptide 19

text: International hapmap project - ceph utah residents with ancestry from northern and western europe

text: Ceph/utah pedigree 1344

text: GM12056 male unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 52 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: More than one race

text: Male

characteristic: sex

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND22283 male affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Paternal Grandmother

text: UTAH/MORMON

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1344

text: GM12057 female unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample

characteristic: title


text: Coriell

characteristic: INSDC first public

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: NON-HISPANIC

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND22286 female affected Intracranial aneurysm - unruptured sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission package

text: Utah Residents (CEPH) with Northern and Western European ancestry

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Maternal grandmother Same as 1375-09

characteristic: description

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: female

text: Ceph/utah pedigree 1344

text: Coriell GM12058


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 52 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: NON-HISPANIC

characteristic: ethnicity

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

characteristic: tag

text: ND22287 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Alagille syndrome

text: 5 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Expired at age 5;heart murmur;broad;high forehead with typical facies;paucity of intrahepatic bile ducts with hepatic fibrosis;had 2 liver transplants;no verteb anoms or posterior embryotoxon were found;46;XY;passage 4 at CCR

characteristic: family id

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Alagille syndrome

text: AGS

text: GM12079 male affected Alagille syndrome sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 29 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Subarachnoid hemorrhage

text: ND22288 male affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 31 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected son is GM12078 Fibroblast

characteristic: description

text: AFRICAN-AMERICAN

text: mother

text: Homo sapiens

text: Black

text: Female

text: Alagille syndrome

text: AGS

text: GM12081 female unaffected Alagille syndrome sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 53 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: NON-HISPANIC

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND22289 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Ceph/utah pedigree 1332

characteristic: tag

text: GM12089 female unaffected Ceph/utah pedigree 1332 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Identifiler results indicate that samples from ND22290 and ND22292 are from different individuals.

text: NON-HISPANIC

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Subarachnoid hemorrhage

text: ND22290 male affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 1332

text: GM12090 male unaffected Ceph/utah pedigree 1332 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 78 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial rupture-status undefined

text: ND22292 female affected Intracranial rupture-status undefined sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1332

text: GM12091 male unaffected Ceph/utah pedigree 1332 sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 81 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: NON-HISPANIC

characteristic: ethnicity

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND22298 male affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ceph/utah pedigree 1332

characteristic: tag

text: GM12092 female unaffected Ceph/utah pedigree 1332 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND22299 female affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1332

text: GM12093 female unaffected Ceph/utah pedigree 1332 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 58 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: HISPANIC

text: proband

text: Homo sapiens

text: Asian

text: Female

text: Subarachnoid hemorrhage

text: ND22308 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 1332

text: GM12094 male unaffected Ceph/utah pedigree 1332 sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 21 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

characteristic: tag

text: ND22322 male affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1332

text: GM12095 male unaffected Ceph/utah pedigree 1332 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND22325 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandfather

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: International hapmap project - ceph utah residents with ancestry from northern and western europe

text: Ceph/utah pedigree 1332

text: GM12096 male unaffected Ceph/utah pedigree 1332 sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 77 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: NON-HISPANIC

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND22328 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother

characteristic: description

text: UTAH/MORMON

text: paternal grandmother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: Ceph/utah pedigree 1332

text: GM12097 female unaffected Ceph/utah pedigree 1332 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND22331 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandmother

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1332

text: GM12099 female unaffected Ceph/utah pedigree 1332 sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 77 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: NON-HISPANIC

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND22336 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 1332

text: GM12100 male unaffected Ceph/utah pedigree 1332 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND22337 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1413

text: GM12101 male unaffected Ceph/utah pedigree 1413 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND22339 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1413

text: GM12102 male unaffected Ceph/utah pedigree 1413 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Intracranial aneurysm - unruptured

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: NON-HISPANIC

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

text: ND22347 male affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 1413

text: GM12103 male unaffected Ceph/utah pedigree 1413 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 61 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND22349 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1413

text: GM12104 female unaffected Ceph/utah pedigree 1413 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 43 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Intracranial aneurysm - unruptured

text: ND22359 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1413

text: GM12105 female unaffected Ceph/utah pedigree 1413 sample


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 59 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: IDENTICAL TWINS PER KATE GARDNER 7/23/09 - AA.

characteristic: description

text: NON-HISPANIC

characteristic: ethnicity

text: identical twin

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND22360 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1413

text: GM12106 male unaffected Ceph/utah pedigree 1413 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

characteristic: tag

text: ND22362 female affected Subarachnoid hemorrhage sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1413

text: GM12107 male unaffected Ceph/utah pedigree 1413 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 58 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: NON-HISPANIC

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Subarachnoid hemorrhage

text: ND22366 male affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1413

text: GM12108 male unaffected Ceph/utah pedigree 1413 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 54 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND22367 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1413

text: GM12109 male unaffected Ceph/utah pedigree 1413 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND22369 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1413

text: GM12110 female unaffected Ceph/utah pedigree 1413 sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: NON-HISPANIC

text: half-sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Subarachnoid hemorrhage

text: ND22371 female affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1413

text: GM12111 male unaffected Ceph/utah pedigree 1413 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 1413

text: GM12112 male unaffected Ceph/utah pedigree 1413 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial rupture-status undefined

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Intracranial rupture-status undefined

text: ND22374 male affected Intracranial rupture-status undefined sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1413

characteristic: tag

text: GM12113 male unaffected Ceph/utah pedigree 1413 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 67 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND22376 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Daughter

text: UTAH/MORMON

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1413

text: GM12114 female unaffected Ceph/utah pedigree 1413 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1413

text: GM12115 male unaffected Ceph/utah pedigree 1413 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

characteristic: sex

text: Subarachnoid hemorrhage

text: ND22378 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother

text: UTAH/MORMON

text: paternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1413

characteristic: tag

text: GM12116 female unaffected Ceph/utah pedigree 1413 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND22382 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Maternal Grandmother

text: UTAH/MORMON

characteristic: family id

text: maternal grandmother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Ceph/utah pedigree 1413

text: GM12117 female unaffected Ceph/utah pedigree 1413 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 36 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected children

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Sponastrime dysplasia

text: GM12125 male unaffected Sponastrime dysplasia sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 59 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

characteristic: ethnicity

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND22383 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Sponastrime dysplasia

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Short limbs;short stature;mild frontal bossing;high forehead;mild biparietal bossing;short;broad nose with anteverted nares;residual epicanthal folds;genu & cubitus recurvatum

text: brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Sponastrime dysplasia

text: GM12126 male affected Sponastrime dysplasia sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND22386 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: Cirrhosis familial

text: 9 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;affected sister is GM11899

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Cirrhosis, familial, with pulmonary hypertension included

text: Cirrhosis familial

text: GM12127 female affected Cirrhosis familial sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 69 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: NON-HISPANIC

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Intracranial aneurysm - unruptured

text: ND22388 male affected Intracranial aneurysm - unruptured sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Myasthenia gravis

text: 63 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Weakness of arms and neck along with double vision;onset at age 50;thymectomy at age 50;stable on Mestinon and Imuran;elevated acetylcholine receptor antibody titer

characteristic: description

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Myasthenia gravis

text: MG

text: GM12129 male affected Myasthenia gravis sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 44 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

characteristic: ethnicity

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND22390 female affected Subarachnoid hemorrhage sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Glycogen storage disease iv

text: 2 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Liver biopsy fibroblast culture;hepatic insufficiency & portal hypertension with hepatomegaly;parents are GM12136 & 12137 Lymphoid;liver transplant for cirrhosis;diagnosis confirmed by deficiency of brancher enzyme

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Glycogen storage disease iv

text: GM12131 male affected Glycogen storage disease iv sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Intracranial rupture-status undefined

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial rupture-status undefined

characteristic: tag

text: ND22391 female affected Intracranial rupture-status undefined sample


text: Coriell

text: live

text: Generic

text: 31 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically unaffected;affected daughter is GM12254 Fibroblast

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Alagille syndrome

text: AGS

text: GM12132 female unaffected Alagille syndrome sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 57 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

text: ND22392 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 31 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Alagille syndrome

text: AGS

text: GM12133 male unaffected Alagille syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

characteristic: ethnicity

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND22395 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Duplicated chromosome

text: 15 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At age 10;weight >95th percentile;height 5th percentiile;and OFC 50th percentile;typical facies;hypoplastic tooth enamel with multiple caries;fair skin;blond hair;and blue irides;small hands and feet;small penis;mild hypotonia;46;XY;dup(15)(q11>q12);same subject as GM13553 (sampled at age 17 years)

text: proband

text: 46;XY;dup(15)(pter->q12::q11->qter);46;XY;dup(15)(pter>q12::q11>qter)

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Duplicated chromosome

text: PWS

text: Prader-willi syndrome

text: GM12134 male affected Duplicated chromosome sample


text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 62 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: NON-HISPANIC

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Subarachnoid hemorrhage

characteristic: tag

text: ND22396 male affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Prader-willi syndrome

text: 19 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: At age 13;weight >95th %ile;height 15th %ile;and OFC 75th %ile;small hands and feet;brown hair and irides;cleft palate;developmental delay;irregular menses;46;XX;dup(15)(q11>q12)

text: Homo sapiens

text: Caucasian

text: Female

text: PWS

text: Prader-willi syndrome

text: GM12135 female affected Prader-willi syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 35 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Subarachnoid hemorrhage

text: ND22399 male affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected son is GM12131 Fibroblast

characteristic: description

text: NORWEGIAN

characteristic: ethnicity

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Glycogen storage disease iv

text: GM12136 female unaffected Glycogen storage disease iv sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Intracranial aneurysm - unruptured

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND22402 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

text: 39 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: NORWEGIAN

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Glycogen storage disease iv

text: GM12137 male unaffected Glycogen storage disease iv sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

characteristic: tag

text: ND22404 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1334

text: GM12138 male unaffected Ceph/utah pedigree 1334 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 68 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Intracranial aneurysm - unruptured

text: ND22414 male affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1334

text: GM12139 female unaffected Ceph/utah pedigree 1334 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: Subarachnoid hemorrhage

text: 84 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

characteristic: ethnicity

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND22418 female affected Subarachnoid hemorrhage sample


characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1334

text: GM12141 male unaffected Ceph/utah pedigree 1334 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission model

text: Subarachnoid hemorrhage

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: NON-HISPANIC

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

characteristic: tag

text: ND22420 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: family id

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 1334

text: GM12142 male unaffected Ceph/utah pedigree 1334 sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial rupture-status undefined

text: 48 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial rupture-status undefined

text: ND22427 male affected Intracranial rupture-status undefined sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1334

text: GM12143 male unaffected Ceph/utah pedigree 1334 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

characteristic: ethnicity

text: brother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND22433 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

text: Utah Residents (CEPH) with Northern and Western European ancestry

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Paternal Grandfather

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: male

characteristic: sex

text: Cytochrome p450, subfamily iic, polypeptide 19

text: International hapmap project - ceph utah residents with ancestry from northern and western europe

text: Ceph/utah pedigree 1334

text: International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe

text: Coriell GM12144


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: Intracranial aneurysm - unruptured

text: 47 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: NON-HISPANIC

characteristic: family id

text: sister

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND22434 female affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother;donor subject has a single bp (G-to-A) transition at nucleotide 681 in exon 5 of the CYP2C19 gene (CYP2C19*2) which creates an aberrant splice site. The change altered the reading frame of the mRNA starting with amino acid 215 and produced a premature stop codon 20 amino acids downstream;resulting in a truncated;nonfunctional protein. Because of the aberrant splice site;a 40-bp deletion occurred at the beginning of exon 5 (from bp 643 to bp 682);resulting in deletion of amino acids 215 to 227. The truncated protein had 234 amino acids and would be catalytically inactive because it lacked the heme-binding region.

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: paternal grandmother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Ceph/utah pedigree 1334

text: GM12145 female unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 55 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: NON-HISPANIC

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND22446 female 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: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Maternal Grandfather

text: UTAH/MORMON

characteristic: family id

text: maternal grandfather

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 1334

text: GM12146 male unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 60 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND22448 male affected Intracranial aneurysm - unruptured sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1408

text: GM12147 female unaffected Ceph/utah pedigree 1408 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: HISPANIC

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND22451 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 1408

text: GM12148 male unaffected Ceph/utah pedigree 1408 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Intracranial rupture-status undefined

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: NON-HISPANIC

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Intracranial rupture-status undefined

text: ND22456 female affected Intracranial rupture-status undefined sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1408

characteristic: tag

text: GM12149 female unaffected Ceph/utah pedigree 1408 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 60 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND22458 female affected Intracranial aneurysm - unruptured sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1408

text: GM12150 female unaffected Ceph/utah pedigree 1408 sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Subarachnoid hemorrhage

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

text: NON-HISPANIC

text: cousin

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND22460 female affected Subarachnoid hemorrhage sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Daughter

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ceph/utah pedigree 1408

text: GM12151 female unaffected Ceph/utah pedigree 1408 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: NON-HISPANIC

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Intracranial aneurysm - unruptured

text: ND22465 male affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1408

characteristic: tag

text: GM12152 male unaffected Ceph/utah pedigree 1408 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 39 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: ND22472 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1408

text: GM12153 male unaffected Ceph/utah pedigree 1408 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 36 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: ND22473 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: Coriell plate

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: NCBI submission package

text: Utah Residents (CEPH) with Northern and Western European ancestry

characteristic: Population Description

characteristic: SRA accession

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Paternal Grandfather

text: UTAH/MORMON

text: paternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: male

characteristic: sex

text: International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe

text: Coriell GM12154


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Tourette syndrome

text: 10 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Tourette syndrome

characteristic: tag

text: ND22474 male affected Tourette syndrome sample

characteristic: title


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

characteristic: Population Description

characteristic: SRA accession

text: EUR

text: European

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandfather;subsequent to the submission of this sample and the establishment of the cell line;a detailed analysis of HapMap data has shown that the sample is from an unreported relative of another member or members of this panel;as described in Nature 437:1299-1320 (2005). (See Supplementary Table 15 and Supplementary Information on p.12. PMID: 16255080 )

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

text: maternal grandfather

text: Homo sapiens

characteristic: organism

text: CEU

text: Caucasian

text: male

text: Coriell GM12155


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Progressive supranuclear palsy

text: 54 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Progressive supranuclear palsy

text: ND22476 male affected Progressive supranuclear palsy sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

text: Generic

text: EUR

characteristic: Super Population Code

text: European

characteristic: Super Population Description

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Maternal Grandmother

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: female

characteristic: tag

text: Coriell GM12156

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 53 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND22477 female unaffected Population/convenience control sample


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Daughter

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Ceph/utah pedigree 1408

text: GM12157 female unaffected Ceph/utah pedigree 1408 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Epilepsy

text: 5 YR

text: B-Lymphocyte

text: NINDS Repository

text: FATHER IS HALF IRANIAN

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Epilepsy

characteristic: tag

text: ND22484 female affected Epilepsy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Wilson disease

text: 18 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Hypercupriuria;acute hepatic necrosis with hemolysis;liver biopsy copper concentration was greatly elevated;parents are GM12198 & 12199 Lymphoid

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Wilson disease

text: GM12158 female affected Wilson disease sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 30 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: mother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Epilepsy

text: ND22486 female affected Epilepsy sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 18 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Chromosome deletion

text: GM12160 female unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: Parkinson disease

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Parkinson disease

text: ND22492 male affected Parkinson disease sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected daughter is GM12158 Fibroblast

characteristic: description

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Wilson disease

text: GM12198 male unaffected Wilson disease sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 41 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Wilson disease

characteristic: tag

text: GM12199 female unaffected Wilson disease sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Parkinson disease

text: 73 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND22493 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 29 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected child (GM12203);no family history of dermatologic or overgrowth disorders

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: Proteus syndrome

text: GM12200 male unaffected Proteus syndrome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Parkinson disease

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND22494 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 29 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Proteus syndrome

text: GM12201 female unaffected Proteus syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 8 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;1 affected fraternal twin sister (GM12203)

text: twin brother

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Proteus syndrome

text: GM12202 male unaffected Proteus syndrome sample


text: Coriell

text: live

text: Generic

text: Epilepsy

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Other

characteristic: race

text: Female

text: Epilepsy

text: ND22495 female affected Epilepsy sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Proteus syndrome

text: 9 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;purple discoloration developed over the right leg at age 2 years;middle and index fingers on left hand were enlarged;during the second year of life toes also enlarged;plantar surfaces of feet exhibited soft-tissue overgrowth;by age 3 the vascular changes on right leg began to fade;linear pigmented plaques were noted over the axilla and extensor surface of the right arm extending to the hand;x-rays of hands showed multiple exostoses and increased bone length and width;digital shortening;phalangeal epiphysiodesis;and debulking procedures were performed on the left middle finger;because of progressive enlargement;amputation of the left middle finger was necessary at age 5;cerebriform lesions of feet;biopsy of plantar masses showed findings consistent with connective tissue nevi;multiple connective tissue hamartomata;normal cognitive development;decrease in subcutaneous tissue resulted in venous prominence and a mature facial appearance;pulmonary insufficiency with sequela of cardiac insufficiency;heart-lung transplant;normal fraternal twin brother is GM12202;parents are GM12200 and GM12201;a fibroblast culture from this same donor is GM12260

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Proteus syndrome

text: GM12203 female affected Proteus syndrome sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: Peripheral myelin protein 22

text: 48 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: French-Acadian;Type 1A;abnormal nerve conduction velocity (14.8m/sec);4 affected generations in pedigree;patient has CMT1A duplication of approximately 1.5 Mb of 17p

text: FRENCH ACADIAN

characteristic: ethnicity

characteristic: gene

text: DUP (17p)

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Charcot-marie-tooth disease type 1a

characteristic: tag

text: Copy number variation (cnv) refernece panel 02

text: Peripheral myelin protein 22

text: GM12214 male affected Peripheral myelin protein 22 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 52 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND22496 male unaffected Control sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 3 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Simple virilizing 21-hydroxylase deficiency;elevated 17-hydroxyprogesterone level;pubic hair since age 12 months;accelerated growth;bone age is twice chronological age;acne;donor subject is a compound heterozygote: one allele has a deletion of 30 Kb in exon 3-4 of the CYP21A2 gene leaving behind the C4A gene and a single CYP21P-like gene - the deletion prevents the synthesis of the protein and destroys all enzymatic activity;the second allele has codon 172 of the mutant gene changed from ATC;encoding isoleucine;to AAC;encoding asparagine Ile172Asn (I172N)

text: 30-KB DEL

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: GM12217 male affected Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: ND22504 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 1 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal except for borderline low-set ears;mother carries the same chromosomal abnormality

characteristic: description

text: 46;XX;del(10)(pter>p12.31::p11.23>qter).ish del(10)(D10S2488+;D10S2490+).arr 10p12.31>p11.23(21643193-28714650)x1

characteristic: karyotype

text: Homo sapiens

text: More than one race

text: Female

text: Chromosome deletion

characteristic: tag

text: GM12218 female unaffected Chromosome deletion sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

text: Tourette syndrome

text: 10 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND22505 male affected Tourette syndrome sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 29 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;affected son is GM11902 Fibroblast;normal x-ray exam of thoracic & lumbar spine;pelvis;& hands

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: Spondyloperipheral dysplasia

text: GM12220 female unaffected Spondyloperipheral dysplasia sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Tourette syndrome

text: 14 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Tourette syndrome

text: ND22507 male affected Tourette syndrome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 30 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Spondyloperipheral dysplasia

text: GM12221 male unaffected Spondyloperipheral dysplasia sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: ND22508 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

text: 33 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;4 affected children

characteristic: description

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM12222 female unaffected Carbamoyl phosphate synthetase i deficiency sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 49 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: ND22509 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 38 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM12223 male unaffected Carbamoyl phosphate synthetase i deficiency sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 20 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: ND22510 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 2 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Hyperammonemia manifest in first postnatal days;3 affected sibs

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: GM12224 male affected Carbamoyl phosphate synthetase i deficiency sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Parkinson disease

text: 78 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

text: ND22512 female affected Parkinson disease sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Incontinentia pigmenti

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Characteristic skin lesions;mother is also affected;1 spontaneous miscarriage of a male fetus;GM12008 Fibroblast;& a pregnancy termination for anencephaly;GM10112 Fibroblast

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Incontinentia pigmenti

text: IP

text: GM12225 female affected Incontinentia pigmenti sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Parkinson disease

text: ND22513 male affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: Incontinentia pigmenti

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Characteristic skin lesions;mother of GM12225

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Incontinentia pigmenti

text: IP

text: GM12226 female affected Incontinentia pigmenti sample


text: Coriell

text: live

text: Generic

text: 70 YR

text: B-Lymphocyte

text: NINDS Repository

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Unrelated condition upon exam

text: ND22517 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample