text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 81 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12051

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND12055 male unaffected Neurologically normal caucasian control panel sample


status: PUBLIC

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

tag: attribute

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Father

characteristic: description

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Cytochrome p450, subfamily iic, polypeptide 19

characteristic: tag

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

text: Ceph/utah pedigree 1340

text: GM07029 male 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

text: Generic

text: 64 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12053

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12056 female unaffected Neurologically normal caucasian control panel sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

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 1331

text: GM07030 male unaffected Ceph/utah pedigree 1331 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 46 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12054

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12057 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Maternal Grandmother Same as 13294-10

characteristic: description

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

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

text: Ceph/utah pedigree 13292

text: GM07031 female unaffected Ceph/utah pedigree 13292 sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND12069 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Ceph/utah pedigree 13292

text: GM07032 male unaffected Ceph/utah pedigree 13292 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12084

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

characteristic: tag

text: ND12082 male unaffected Population/convenience control sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

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 1331

text: GM07033 male unaffected Ceph/utah pedigree 1331 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Als panel bulbar onset all definite als

text: 54 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND12082

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel bulbar onset all definite als

text: Amyotrophic lateral sclerosis 1

text: ND12084 female affected Als panel bulbar onset all definite als sample


text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Paternal Grandfather

characteristic: description

text: UTAH/MORMON

characteristic: family id

text: paternal grandfather

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 1341

text: GM07034 male unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spousal control of proband ND12099

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

text: ND12092 female unaffected Population/convenience control 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

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 13294

characteristic: tag

text: GM07035 male unaffected Ceph/utah pedigree 13294 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 49 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND12092

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12099 male affected Amyotrophic lateral sclerosis 1 sample


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

characteristic: family id

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 13291

text: GM07036 male unaffected Ceph/utah pedigree 13291 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 51 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: spousal control of proband ND12111

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

characteristic: sex

text: Population/convenience control

text: ND12106 male unaffected Population/convenience control sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

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

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Paternal Grandmother Same as 13292-11;13293-11;& 13294-12

text: UTAH/MORMON

characteristic: ethnicity

text: paternal grandmother

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: female

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

characteristic: tag

text: Coriell GM07037

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 56 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND12115

characteristic: description

characteristic: family id

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND12110 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father;donor subject is heterozygous for a C>T change at nucleotide 416 (416C>T) in exon 3 of the CYP2C9 gene (CYP2C9*2) which results in a substitution of cysteine for arginine at codon 144 Arg144Cys (R144C)

text: UTAH/MORMON

characteristic: ethnicity

text: father

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Cytochrome p450, subfamily iic, polypeptide 9

text: Ceph/utah pedigree 1333

text: Snp500 panel

text: GM07038 male unaffected Snp500 panel sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND12110 is unaffected spouse

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND12115 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

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 13293

text: GM07039 male unaffected Ceph/utah pedigree 13293 sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 61 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: ND12127 is unaffected spouse

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12126 male affected Amyotrophic lateral sclerosis 1 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: ethnicity

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 1340

text: GM07040 male unaffected Ceph/utah pedigree 1340 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12126

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Population/convenience control

text: ND12127 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Daughter Same as 13293-02

text: UTAH/MORMON

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1328

characteristic: tag

text: GM07041 female unaffected Ceph/utah pedigree 1328 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 48 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12129

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel upper-limb onset definite and probable als

text: Amyotrophic lateral sclerosis 1

text: ND12128 male affected ALS1 sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Father;Brother of 13294-02

text: UTAH/MORMON

text: father

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 13292

text: GM07042 male unaffected Ceph/utah pedigree 13292 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 44 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12128

characteristic: description

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND12129 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 13294

text: GM07043 male unaffected Ceph/utah pedigree 13294 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND12131 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

characteristic: cell line

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 1341

text: GM07044 female unaffected Ceph/utah pedigree 1341 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 57 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12132 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandmother

characteristic: description

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

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

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

text: Ceph/utah pedigree 13291

text: GM07045 female unaffected Ceph/utah pedigree 13291 sample


text: Coriell

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: 43 YR

text: B-Lymphocyte

text: NINDS Repository

text: spousal control of proband ND12131

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Control

text: Population/convenience control

text: ND12133 female unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Father

text: UTAH/MORMON

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Ceph/utah pedigree 13293

characteristic: tag

text: GM07046 male unaffected Ceph/utah pedigree 13293 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 78 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12139

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND12137 male unaffected Population/convenience control sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

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 13291

text: GM07047 male unaffected Ceph/utah pedigree 13291 sample


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 63 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12137

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Als panel upper-limb onset probable and possible als

text: Amyotrophic lateral sclerosis 1

text: ND12139 female affected Ndpt116 - als panel: caucasians from north america upper-limb onset sample


characteristic: Coriell plate

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC first public

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

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

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: culture collection

text: Father

characteristic: description

text: UTAH/MORMON

text: father

text: Homo sapiens

characteristic: organism

text: CEU

characteristic: population

text: Caucasian

text: male

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

text: Coriell GM07048


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: African American

characteristic: race

text: Female

characteristic: sex

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND12140 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

characteristic: INSDC status

text: Generic

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandfather

text: UTAH/MORMON

characteristic: ethnicity

characteristic: family id

text: paternal grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 1333

text: GM07049 male unaffected Ceph/utah pedigree 1333 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Subarachnoid hemorrhage

text: 53 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Subarachnoid hemorrhage

text: ND12153 female affected Subarachnoid hemorrhage sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Maternal Grandmother

characteristic: description

text: UTAH/MORMON

text: maternal grandmother

text: Homo sapiens

text: Caucasian

text: Female

text: Ceph/utah pedigree 1331

text: GM07050 female unaffected Ceph/utah pedigree 1331 sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 55 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12159 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC secondary accession

text: live

text: Generic

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 Grandfather Same as 13294-09

text: UTAH/MORMON

text: maternal grandfather

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

text: male

characteristic: sex

characteristic: tag

text: Coriell GM07051

characteristic: title


characteristic: External Id

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: 50 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12159

characteristic: description

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND12160 female unaffected Population/convenience control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 1333

text: GM07052 male unaffected Ceph/utah pedigree 1333 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12162

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Als panel lower-limb onset

characteristic: tag

text: Als panel lower-limb onset probable and possible als

text: Amyotrophic lateral sclerosis 1

text: ND12161 male affected ALS1 sample

characteristic: title


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: 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 1340

text: GM07053 female unaffected Ceph/utah pedigree 1340 sample


text: Coriell

text: live

text: Generic

text: Progressive muscular atrophy

text: 61 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12170

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Progressive muscular atrophy

text: ND12169 female affected Progressive muscular atrophy sample


characteristic: DNA id

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

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Ceph/utah pedigree 13294

text: GM07054 male unaffected Ceph/utah pedigree 13294 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 63 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12169

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Population/convenience control

characteristic: tag

text: ND12170 male unaffected Neurologically normal caucasian control panel sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

characteristic: INSDC secondary accession

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: SRA accession

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Paternal Grandmother;GM07055B is a mosaic culture: approximately 20% of the culture is 46;XX and approximately 80% of the culture has a deletion on 2q and a translocation between chromosomes 4 and 6;it is probable that these changes took place in culture

text: UTAH/MORMON

text: paternal grandmother

text: 46;XX 9 /46;XX;del(2)(pter>q23::q31>qter);t(4;6)(4pter>4q21.3::6q27>6qter;6pter>6q27::4q21.3>4qter) 41

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

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 1341

text: GM07055 female unaffected International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 40 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: ND12173 is unaffected spouse

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12172 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: Coriell plate

characteristic: DNA id

characteristic: External Id

characteristic: HapMap sample ID

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

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

characteristic: Population Description

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: collection

characteristic: culture collection

text: Maternal Grandmother;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 )

text: UTAH/MORMON

characteristic: ethnicity

text: maternal grandmother

text: Homo sapiens

text: CEU

characteristic: population

text: Caucasian

characteristic: race

text: female

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

text: Coriell GM07056


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 36 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse of proband ND12172

characteristic: description

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Control

characteristic: tag

text: Population/convenience control

text: ND12173 female unaffected Control sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Father

text: UTAH/MORMON

characteristic: family id

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Snp500 panel

text: Ceph/utah pedigree 1331

text: GM07057 male unaffected Ceph/utah pedigree 1331 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12175 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

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

text: Ceph/utah pedigree 13291

text: GM07058 female unaffected Ceph/utah pedigree 13291 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 75 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: ND12177 is unaffected spouse

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND12176 female affected Amyotrophic lateral sclerosis 1 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

text: Caucasian

text: Female

characteristic: sex

text: Ceph/utah pedigree 1331

characteristic: tag

text: GM07059 female unaffected Ceph/utah pedigree 1331 sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 79 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spousal control of proband ND12176

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12177 female unaffected Neurologically normal caucasian control panel 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

characteristic: family id

text: son

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Ceph/utah pedigree 13293

text: GM07060 male unaffected Ceph/utah pedigree 13293 sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: African American

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12178 male affected Amyotrophic lateral sclerosis 1 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: Son

text: UTAH/MORMON

characteristic: ethnicity

text: son

text: Homo sapiens

text: Caucasian

text: Male

text: Ceph/utah pedigree 13293

text: GM07061 male unaffected Ceph/utah pedigree 13293 sample


text: Coriell

text: live

text: Generic

text: 62 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: spouse

text: Homo sapiens

text: African American

text: Female

characteristic: sex

text: Control

text: Population/convenience control

text: Ninds african american population control plate

text: ND12179 female unaffected Control sample


characteristic: External Id

text: Coriell

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 1340

characteristic: tag

text: GM07062 female unaffected Ceph/utah pedigree 1340 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 48 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: ND12181 is spousal control

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12180 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Fmr1 gene

text: 16 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Slow learner;14/50 blood lymphocytes showed fra(X);4 affected cousins;daughter of GM07064A;7% of lymphoblasts were positive for the Xq27-28 fragile site;carrier female by Southern analysis

characteristic: family id

text: maternal cousin

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM07063 female affected Fmr1 gene sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND12180

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND12181 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 39 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Normal IQ;4 sisters are carriers;nonexpressing obligate carrier;1 affected daughter;4 affected nephews;negative for fra(X) in PBL;carrier female by Southern analysis

characteristic: description

text: maternal aunt

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Fragile x mental retardation syndrome

text: GM07064 female unaffected Fragile x mental retardation syndrome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Parkinson disease

text: 55 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Parkinson disease

characteristic: tag

text: ND12187 female affected Parkinson disease sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 60 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND12211 is unaffected spouse

characteristic: family id

text: proband

text: Homo sapiens

text: Other

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12209 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12210 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 53 YR

text: B-Lymphocyte

text: NINDS Repository

text: spousal control of proband ND12210

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12212 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 54 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12218 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 37 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12238

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12235 female unaffected Population/convenience control sample


text: Coriell

text: live

text: Generic

text: Ichthyosis congenita

text: 1 DA

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Thick;cracked yellowish skin broken into plates;swollen hands & feet with hypoplastic digits & very small nails;bilateral ectropion of eyelids;flattened nose & auricles;sparse hair;negative family history

characteristic: description

text: Homo sapiens

text: Caucasian

text: Male

text: Ichthyosis congenita

text: Harlequin fetus type

text: GM07065 male affected Ichthyosis congenita sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 38 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12235

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND12238 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Letterer-siwe disease

text: 10 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Posterior and anterior pituitary insufficiency;obese;weak;slow-moving with some difficulty with fine motor skills;histiocytosis in the sella turcica along with three skull lesions;several episodes of pneumonia;diabetes insipidus;no anterior hypopituitary insufficiency;46;XX

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Letterer-siwe disease

text: GM07067 female affected Letterer-siwe disease sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 67 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND12252 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 22 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: A twin fetus (dizygotic) has the unbalanced translocation

text: 46;XX;t(6;10)(6pter>6q25.3::10q26.1> 10qter;10pter>10q26.1::6q25.3>6qter)

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: GM07069 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 66 YR

text: B-Lymphocyte

text: NINDS Repository

text: spousal control of proband ND12252

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12253 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Fmr1 gene

text: 22 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Kidney biopsy;mother is an obligate carrier for fra(X);9/50 cord blood lymphocytes showed fra(X);negative for fra(X) in kidney tissue;same patient as GM07072;mother is GM06968 Lymphoid;affected male by Southern analysis

text: JEWISH

characteristic: ethnicity

text: proband

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM07071 male affected Fmr1 gene sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Intracranial aneurysm - unruptured

text: 48 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Intracranial aneurysm - unruptured

text: ND12256 female affected Intracranial aneurysm - unruptured sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Chromosome deletion

text: 22 FW

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Lung biopsy;mother is an obligate carrier for fra(X);9/50 cord blood lymphocytes showed fra(X);mother is GM06968 Lymphoid;same patient as GM07071;negative for fra(X) in lung tissue

characteristic: description

text: JEWISH

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Chromosome deletion

characteristic: tag

text: Fragile x mental retardation syndrome

text: GM07072 male affected Chromosome deletion sample

characteristic: title


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

characteristic: NCBI submission package

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12263

characteristic: family id

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND12259 female unaffected Neurologically normal caucasian control panel sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Hydroxymethylbilane synthase

text: 32 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Paralysis;normal erythrocyte porphobilinogen deaminase activity and immunologically cross-reacting material;urine contains large amounts of PBG;donor subject is heterozygous for a C>T transition at nucleotide 346 in exon 8 of the HMBS gene (346C>T) resulting in the substitution of tryptophan for arginine at codon 116 Arg116Trp (R116W)

text: HMBS

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Male

text: Hydroxymethylbilane synthase

text: HMBS

text: Porphyria, acute intermittent

text: GM07077 male affected Hydroxymethylbilane synthase sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Als panel lower-limb onset

text: 64 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12259

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Als panel lower-limb onset

text: Progressive muscular atrophy

text: Als panel lower-limb onset probable and possible als

text: ND12263 male affected Als panel lower-limb onset sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 20 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;birth weight 5 lbs 6 oz;microcephaly and poor growth noted in first 3 months of life;short stature;developmental delay;hypogammaglobulinemia diagnosed at age 6;at age 18 height was 129 cm;weight was 22.6 kg and;head circumference was 42 cm;birdlike facies with a prominent beaked nose and recessed chin;low-set ears;hypoplasia of dental enamel;tympanic membranes appeared scarred;small tonsils;no cervical lymphoid tissue palpable;bilateral rales on chest exam;severe immunodeficiency;lymphopenic with decreases in both B and T cell numbers;proliferative responses to mitogens were poor;serum IgG 120 mg/dL;IgM 20 mg/dL;IgA undetectable;high incidence of chromosome breakage;T cells show breakage at fragile sites on chromosomes 7 and 14;donor subject is homozygous for a deletion of 5 nucleotides in exon 6 of the NBS1 gene;resulting in a frameshift and a premature termination at codon 218 657-661delACAAA (657del5);mother is GM08037;father is GM08036;see GM07166 fibroblast cell line.

text: proband

text: 46;XX;21ps+;46;XX;21s+ Increased structural aberrations

characteristic: karyotype

text: 5-BP DEL

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Marker chromosome

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM07078 female affected NBS1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 50 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12265

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Als panel upper-limb onset definite and probable als

text: Amyotrophic lateral sclerosis 1

text: ND12264 male affected ALS1 sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 3 MO

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Skin biopsy;microcephaly;hypertelorism;cleft palate and gingiva;left club foot;large fontanel;congenital dislocation of shoulders and hips;congenital heart disease;failure to thrive;and developmental delay

characteristic: family id

text: proband

text: 46;XY;+der(7)(7pter> 7q11.2::15q11.2>15qter)mat;-15

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Translocated chromosome

text: GM07081 male unaffected Translocated chromosome sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 50 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12264

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND12265 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 3 MO

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Lung biopsy;microcephaly;hypertelorism;cleft palate and gingiva;left club foot;large fontanelle;congenital dislocation of shoulders and hips;congenital heart disease;failure to thrive;and developmental delay

text: proband

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Male

text: Translocated chromosome

text: GM07082 male unaffected Translocated chromosome sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12285

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND12282 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Ehlers-danlos syndrome type ii

text: 3 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Soft;velvety;hyperextensible skin;some hypermobility of joints;easy bruising;umbilical hernia;negative family history

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Ehlers-danlos syndrome type ii

text: GM07089 female affected Ehlers-danlos syndrome type ii sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 27 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND12282

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

text: Population/convenience control

text: ND12285 female unaffected Control sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: Lesch-nyhan syndrome

text: 2 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Delayed motor development;choreoathetoid movements;elevated serum uric acid;no self-mutilation;deficient WBC HPRT activity;normal APRT activity;no males with neurologic disorders in pedigree;exon 8 deleted from HPRT1 cDNA

text: ITALIAN/IRISH

characteristic: ethnicity

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: LNS

text: Hypoxanthine guanine phosphoribosyltransferase 1

text: Lesch-nyhan syndrome

text: HPRT

text: GM07092 male affected Lesch-nyhan syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 51 YR

characteristic: age

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spousal control of proband ND12298

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND12297 female unaffected Population/convenience control sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Carrier by hair root assay;1 affected son;some family history of gout and renal stones

characteristic: description

text: ITALIAN/IRISH

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: LNS

text: Lesch-nyhan syndrome

text: GM07093 female unaffected Lesch-nyhan syndrome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND12297

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND12298 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

text: 34 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;1 affected son

text: ITALIAN

characteristic: ethnicity

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: LNS

text: Lesch-nyhan syndrome

text: GM07094 male unaffected Lesch-nyhan syndrome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Parkinson disease

text: 52 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Parkinson disease

text: ND12302 female affected Parkinson disease sample


text: Coriell

text: live

text: Generic

text: 50 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;onset at age 8;multiple episodes of depression;mania;& panic attacks;has received Elavil;Stelazine;Triavil;& Tofranil;no hospitalizations

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM07097 female affected Major affective disorder - 125480 or 309200 sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

text: ND12305 female affected Intracranial aneurysm - unruptured sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 6 WK

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal;partial ADA deficiency;normal growth & development at 6 weeks of age;normal immunologic tests;absent RBC ADA activity;50% of normal lymphocyte ADA activity;16% of normal ADA activity in lymphoblasts;donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 226 in exon 4 of the ADA gene 226C>T resulting in a substitution of tryptophan for arginine at codon 76 Arg76Trp(R76W) and a second allele has a T>C transition at nucleotide 320 in exon 4 of the ADA gene 320T>C resulting in a substitution of proline for leucine at codon 107 Leu107Pro (L107P);mother is GM07104.

characteristic: description

text: proband

text: ADA

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Black

text: Female

characteristic: sex

text: Severe combined immunodeficiency autosomal recessive

text: Adenosine deaminase

text: ADA

text: GM07103 female unaffected T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 56 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: ND12308 is spousal control

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND12307 male affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 37 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;17% of normal RBC ADA activity;39% of normal ADA activity in lymphoblasts;affected child is GM07103.

text: AFRICAN-AMERICAN

characteristic: ethnicity

text: mother

text: Homo sapiens

characteristic: organism

text: Black

text: Female

text: T cell-negative, b cell-negative, nk cell-negative due to adenosine deaminase deficiency

text: GM07104 female unaffected Severe combined immunodeficiency autosomal recessive sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 52 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spousal control of ND12307

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND12308 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 8 FW

text: Chorionic villus-derived cell line

text: NIGMS Human Genetic Cell Repository

text: Hawaiian-Caucasian-Japanese;culture established from membrane & chorionic villi of a spontaneous abortus;47;XY;+22s+

characteristic: description

text: 47;XY;+22ps+;47;XY;+22ps+.arr 8p23.1(7673035-7814405)x1;22q11.1q13.33(14880039-49581309)x3

characteristic: karyotype

text: Homo sapiens

text: Other

text: Male

characteristic: sex

text: Aneuploid chromosome number - trisomy

text: GM07106 male unaffected Aneuploid chromosome number - trisomy sample


text: Coriell

text: live

text: Generic

text: Progressive muscular atrophy

text: 41 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: ND12313 is unaffected spouse

characteristic: family id

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Progressive muscular atrophy

characteristic: tag

text: ND12312 female affected Progressive muscular atrophy sample

characteristic: title


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: Reticulosis

text: 2 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: CNS degeneration;recurrent fever;hepatomegaly;anemia;neutropenia;thrombocytopenia;liver and retro-orbital tissue biopsy demonstrated histiocytic infiltration

text: Homo sapiens

text: Caucasian

text: Male

text: Familial histiocytic

text: Reticulosis

text: GM07125 male affected Reticulosis sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 40 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12312

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: ND12313 male unaffected Control sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 63 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Phenotypically normal carrier;46;XY in 250 PBL;father of GM06968 & GM07132;normal transmitting male by Southern analysis

text: JEWISH

characteristic: ethnicity

text: grandfather

text: Homo sapiens

text: Caucasian

text: Male

text: Fragile x mental retardation syndrome

text: GM07131 male unaffected Fragile x mental retardation syndrome sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 75 YR

text: B-Lymphocyte

text: NINDS Repository

text: ND12315 is unaffected spouse

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND12314 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

text: Generic

text: 35 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Clinically normal;1 affected son & paternal uncle;sister of GM06968;46;XX in PBL;carrier female by Southern analysis

text: JEWISH

characteristic: family id

text: maternal aunt

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Fragile x mental retardation syndrome

characteristic: tag

text: GM07132 female unaffected Fragile x mental retardation syndrome sample


text: Coriell

characteristic: INSDC first public

characteristic: INSDC last update

text: live

text: Generic

text: 77 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12314

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND12315 male unaffected Neurologically normal caucasian control panel sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 22 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Mild to moderate mental retardation;emotionally immature;irregular menses;obesity;transient hypertension;possible seizure disorder;short stature;low hairline;dark thick eyebrows;26%/74%

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Translocated chromosome

text: GM07146 female unaffected Translocated chromosome sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 75 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse is ND12320

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND12319 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 18 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Primary amenorrhea;elevated FSH;hypogonadism

characteristic: description

text: 46;X;del(X)(pter->q22.3:).arr Xq22.3q28(108841425-154887040)x1;46;X;del(X)(pter>q22.3:)

text: Homo sapiens

text: American Indian

text: Female

text: Chromosome deletion

text: GM07148 female unaffected Chromosome deletion sample


text: Coriell

text: live

text: Generic

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND12319

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND12320 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 2 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Congenital heart failure;large ductus arteriosus;minor congenital anomalies

text: 45;X;dic(X;22)(Xqter>Xp22.1::22p11.2> 22qter)

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Dicentric chromosome

characteristic: tag

text: GM07149 female unaffected Dicentric chromosome sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 55 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12326

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel

text: Greater than 7 years survival

text: Amyotrophic lateral sclerosis 1

text: ND12325 male affected ALS1 sample

characteristic: title


characteristic: DNA id

characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: Tetralogy of fallot

text: 2 WK

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Multiple congenital defects including cleft palate;coloboma;Tetralogy of Fallot;and abnormal genitalia and extremities;46;X;t(X;17)(Xqter>Xp11.21::17p 11.1>17pter;17qter>17p11.1::Xp11.21> Xpter);balanced

text: 46;X;t(X;17)(17pter->17p11.2::Xp11.2->Xqter;Xpter->Xp11.2::17p11.2->17qter).arr(1-22;X)x2;46;X;t(X;17)(Xqter>Xp11.21::17p11.1> 17pter;17qter>17p11.1::Xp11.21>Xpter)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: Tetralogy of fallot

text: GM07151 female affected Tetralogy of fallot sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 54 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND12325

text: spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND12326 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 27 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Probable unipolar illness;major depression;onset at age 17;required hospitalization & medication;son of GM07154;see GM07153 Fibroblast

characteristic: description

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

text: GM07152 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 59 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Population/convenience control

text: ND12328 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 27 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Probable unipolar illness;major depression;onset at age 17;required hospitalization & medication;son of GM07155;see GM07152A Lymphoid

text: nephew

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: GM07153 male affected Major affective disorder - 125480 or 309200 sample

characteristic: title


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 62 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12328

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel: caucasians from north america lower-limb onset

text: Als panel lower-limb onset definite and probable als

text: Amyotrophic lateral sclerosis 1

text: ND12329 male affected ALS1 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;onset at age 18;indeterminate number of episodes of major depression;indeterminate number of manic episodes;no hospitalizations;no medication;see GM07155 Fibroblast

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: GM07154 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 73 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: Unaffected spouse of ND12331

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Population/convenience control

text: ND12330 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

characteristic: NCBI submission package

text: 65 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;onset at age 18;indeterminate number of episodes of major depression;indeterminate number of manic episodes;no hospitalization;no medication;see GM07154 Lymphoid

text: brother

text: Homo sapiens

text: Caucasian

text: Male

text: GM07155 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND12330

characteristic: description

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND12331 female affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 45 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;2 affected halfbrothers;1 affected son;& 1 affected grandson

characteristic: family id

text: mother

text: Homo sapiens

text: Caucasian

text: Female

text: PMD

text: Pelizaeus-merzbacher disease

text: GM07156 female unaffected Pelizaeus-merzbacher disease sample


text: Coriell

text: live

text: Generic

text: 55 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12333

text: proband

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND12332 female affected ALS1 sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Pelizaeus-merzbacher disease

text: 17 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Epilepsy;visual. handicap. since age 6 mos;obviously blind;striking optic atrophy;no retin. pigmentos.;no cherry red spot;limited speech;atrophy of the extremities;total areflexia;scoliosis;pt. has gastrostomy;pos. family history;donor subject has a T>C transition at nucleotide 608 (608T>C) in exon 4 of the PLP1 gene resulting in a substitution of arginine for tryptophan at codon 163 Trp163Arg (W163R);this mutation has also been described as Trp162Arg (see Koeppen et al;Ann Neurol 21:159-170;1987)

text: proband

characteristic: gene

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: PMD

text: Pelizaeus-merzbacher disease

text: GM07157 male affected Pelizaeus-merzbacher disease sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

text: 64 YR

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: Amyotrophic lateral sclerosis 1

text: ND12334 female affected ALS1 sample

characteristic: title


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 2 YR

characteristic: cell line

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Severely retarded & dysmorphic;Fumarate hydratase activity consistent with trisomy for 1q;46;XY;-2;+der(2);t(1;2) (2pter>2q37::1q32.1>1qter)mat;unbalanced

text: proband

text: 46;XY;der(2)(2pter->2q37::1q32.2->1qter)mat.arr 1q32.2q44(206698478-247190999)x3;2q37.3(239367123-242738117)x1;46;XY;der(2)(2pter>2q37:: 1q32.1>1qter)mat

characteristic: karyotype

text: Homo sapiens

characteristic: organism

text: Other

text: Male

text: Fumarate hydratase

text: FH

text: Translocated chromosome

text: GM07158 male unaffected Fumarate hydratase sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND12334

characteristic: description

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND12335 male unaffected Neurologically normal caucasian control panel sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Nijmegen breakage syndrome

text: 20 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;birth weight 5 lbs 6 oz;microcephaly and poor growth noted in first 3 months of life;short stature;developmental delay;hypogammaglobulinemia diagnosed at age 6;at age 18 height was 129 cm;weight was 22.6 kg and;head circumference was 42 cm;birdlike facies with a prominent beaked nose and recessed chin;low-set ears;hypoplasia of dental enamel;tympanic membranes appeared scarred;small tonsils;no cervical lymphoid tissue palpable;bilateral rales on chest exam;severe immunodeficiency;lymphopenic with decreases in both B and T cell numbers;proliferative responses to mitogens were poor;serum IgG 120 mg/dL;IgM 20 mg/dL;IgA undetectable;high incidence of chromosome breakage;T cells show breakage at fragile sites on chromosomes 7 and 14;donor subject is homozygous for a deletion of 5 nucleotides in exon 6 of the NBS1 gene;resulting in a frameshift and a premature termination at codon 218 657-661delACAAA (657del5);mother is GM08037;father is GM08036;see GM07078 lymphocyte cell line.

text: proband

characteristic: gene

text: 46;XX Structural aberrations & chromosome breakage

text: 5-BP DEL

characteristic: mutation

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

characteristic: sex

text: Nijmegen breakage syndrome gene

text: Nijmegen breakage syndrome

text: GM07166 female affected Nijmegen breakage syndrome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Intracranial aneurysm - unruptured

text: 51 YR

text: B-Lymphocyte

text: NINDS Repository

text: sister

text: Homo sapiens

text: Caucasian

text: Female

text: Intracranial aneurysm - unruptured

characteristic: tag

text: ND12341 female affected Intracranial aneurysm - unruptured sample

characteristic: title


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 4 MO

characteristic: cell line

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Bilateral hip & knee dislocations;bilateral equinovarus deformities of ankles;arachnodactyly;facial asymmetry;unilateral epicanthal fold;general laxity of multiple joints;especially wrist and phalangeal joints;parents are 1st cous.

text: PUERTO RICAN

characteristic: ethnicity

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM07172 female affected Ehlers-danlos syndrome type vii autosomal recessive sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 45 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: Unaffected spouse of ND12347

characteristic: description

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Population/convenience control

text: ND12346 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 22 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Balanced carrier;in situ hybridization using probe pmet 1 (7q31-32) showed hybridization to both the normal chromosome #7 & the t(5;7) chromosome

text: 46;XY;t(5;7)(5pter>5q35::7q22>7qter;7pter>7q22::5q35>5qter)mat

characteristic: karyotype

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Translocated chromosome

text: GM07173 male unaffected Translocated chromosome sample


characteristic: External Id

text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: Amyotrophic lateral sclerosis 1

text: 47 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12346

text: proband

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND12347 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: DNA id

text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 21 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: 46;XY in PBL;could be a non-expressing male based upon family history: affected brother and 2 nephews;normal male by Southern and PCR analyses;CGG repeat is 30;DNA obtained from the donor subject's lymphoblastoid cell line was sequenced in triplicate and the average CGG repeat in the FMR1 gene is 30

text: brother

characteristic: gene

text: (CGG)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

text: Fmr1 gene

characteristic: tag

text: Fragile x mental retardation syndrome

text: GM07174 male unaffected Fmr1 gene sample

characteristic: title


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 62 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: GERMAN

characteristic: ethnicity

text: father

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: ND12348 male unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 26 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Clinically normal;46;XX in PBL;affected brother and 2 nephews;normal female by Southern and PCR analyses;CGG repeats are 30 and 23

characteristic: description

characteristic: family id

text: sister

text: (CGG)n EXPANSION

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Fmr1 gene

text: Fragile x mental retardation syndrome

text: GM07175 female unaffected Fmr1 gene sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 59 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: GERMAN

text: mother

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: ND12349 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: 12 FW

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Fibroblast culture established from fetal membranes

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Aneuploid chromosome number - trisomy

characteristic: tag

text: GM07189 unknown unaffected Aneuploid chromosome number - trisomy sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 42 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

characteristic: collection

text: Unaffected spouse is ND12356

text: proband

text: Homo sapiens

characteristic: organism

text: Pacific Islander

text: Male

text: Amyotrophic lateral sclerosis 1

text: ND12355 male affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 16 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Cyclothymic personality;minor depression;onset at age 14;see GM07200B Lymphoid;maternal 1st cousin of a bipolar male

characteristic: description

text: JEWISH

characteristic: ethnicity

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

text: GM07199 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 42 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12355

characteristic: family id

text: spouse

text: Homo sapiens

text: Pacific Islander

characteristic: race

text: Female

text: Control

text: Population/convenience control

text: ND12356 female unaffected Control sample


characteristic: DNA id

text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: 16 YR

characteristic: cell line

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: Cyclothymic personality;minor depression;onset at age 14;see GM07199 Fibroblast;maternal 1st cousin of a bipolar male

text: JEWISH

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Male

characteristic: sex

text: GM07200 male affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 60 YR

text: B-Lymphocyte

characteristic: cell type

text: NINDS Repository

text: spouse

text: Homo sapiens

text: Caucasian

text: Female

text: Control

characteristic: tag

text: Population/convenience control

text: ND12359 female unaffected Control sample

characteristic: title


characteristic: External Id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 25 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Type II bipolar illness;major depression;onset at age 15;2 episodes of depression;2 episodes of hypomania;treated with Elavil & Lithium;see GM07205 Fibroblast

text: daughter

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: GM07201 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 74 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Progressive muscular atrophy

text: Amyotrophic lateral sclerosis 1

text: ND12360 male affected Amyotrophic lateral sclerosis 1 sample


text: Coriell

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 25 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Type II bipolar illness;major depression;onset at age 15;2 episodes of depression;2 episodes of hypomania;treated with Elavil & Lithium;see GM07201 Lymphoid

characteristic: description

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: GM07205 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND13502

characteristic: family id

text: spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: Population/convenience control

text: ND12371 female unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

text: Ehlers-danlos syndrome type vi

text: 16 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Dwarfism;extreme scoliosis;joint laxity with multiple dislocations;bilateral club foot;myopia;umbilical hernia;easily dislocated patellae;hyperextensible skin;negative family history

text: Homo sapiens

text: Black

text: Male

text: Ehlers-danlos syndrome type vi

text: GM07206 male affected Ehlers-danlos syndrome type vi sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission package

text: 71 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12377

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Als panel

text: Greater than 7 years survival

text: Amyotrophic lateral sclerosis 1

text: ND12376 female affected ALS1 sample


text: Coriell

text: live

text: Generic

text: Ehlers-danlos syndrome type i

text: 2 YR

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Short stature;hyperextensible joints & skin;blue sclerae;bilateral epicanthal folds;velvet textured skin;cigarettepaper-like scar;similarly aff. brother;father & pat. side of family have strong history for distal tubular acidosis

text: Homo sapiens

text: Caucasian

text: Male

text: Ehlers-danlos syndrome type i

characteristic: tag

text: GM07207 male affected Ehlers-danlos syndrome type i sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 74 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12376

text: spouse

text: Homo sapiens

text: Caucasian

text: Male

text: Population/convenience control

text: ND12377 male unaffected Population/convenience control sample

characteristic: title


characteristic: DNA id

text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: One episode of hypomania;onset at age 25;no hospitalization;no medication;maternal 1st cousin of a bipolar male;see GM07209 Fibro;sister of GM07200B

text: JEWISH

characteristic: ethnicity

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: GM07208 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 71 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Male

text: Control

text: Population/convenience control

text: Neurologically normal caucasian control panel

text: ND12379 male unaffected Control sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 28 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: One episode of hypomania;onset at age 25;no hospitalization;no medication;maternal 1st cousin of a bipolar male;see GM07208A Lymphoid;sister of GM07199

characteristic: description

text: JEWISH

characteristic: family id

text: maternal cousin

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM07209 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: Amyotrophic lateral sclerosis 1

text: 65 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12379

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Amyotrophic lateral sclerosis 1

text: ND12380 female affected Amyotrophic lateral sclerosis 1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 26 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;see GM07211 Fibroblast;sister of GM07200B;maternal 1st cousin of a bipolar male

text: JEWISH

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

characteristic: tag

text: GM07210 female unaffected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

characteristic: INSDC last update

text: live

text: Generic

text: Als panel bulbar onset all definite als

text: 77 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: proband

text: Homo sapiens

text: Caucasian

text: Male

text: Als panel bulbar onset all definite als

text: Amyotrophic lateral sclerosis 1

text: ND12417 male affected Als panel bulbar onset all definite als sample


text: Coriell

characteristic: INSDC center name

text: live

characteristic: INSDC status

text: Generic

text: 26 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically unaffected;see GM07210 Lymphoid;sister of GM07199;maternal 1st cousin of a bipolar male

text: JEWISH

characteristic: ethnicity

text: maternal cousin

text: Homo sapiens

text: Caucasian

text: Female

text: GM07211 female unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 71 YR

characteristic: age

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12417

text: unaffected spouse

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Population/convenience control

text: ND12418 female unaffected Neurologically normal caucasian control panel sample


text: Coriell

text: live

text: Generic

text: 14 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Culture established from ovarian biopsy;small infantile uterus and cervix;undergoing chemotherapy for previous malignancy;dic(X) is late labelling

characteristic: description

characteristic: family id

text: proband

text: 46;X;idic(X)(pter->q28::q28->pter) 15 /47;X;idic(X)(pter->q28::q28->pter);+7 3 /45;X 2 .arr Xp22.33q27.1(273978-138007119)x2~3;Xq27.1q27.2(138128434-141477946)x4~5;Xq27.2q28(141481461-154887040)x1;15q13.3(30245952-30644762)x1;17q12(31461228-31653797)x4;46;X;idic(X)(pter>q28::q28>pter)

characteristic: karyotype

text: Homo sapiens

text: Black

characteristic: race

text: Female

text: Dicentric chromosome

text: GM07213 female unaffected Dicentric chromosome sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 58 YR

characteristic: cell line

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected twin sister is ND12422

text: proband

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: Als panel: caucasians from north america lower-limb onset

text: Als panel lower-limb onset definite and probable als

text: Amyotrophic lateral sclerosis 1

text: ND12421 female affected ALS1 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: Meckel syndrome

text: Fibroblast

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: 21 weeks gestation;hydrocephalus;type II multicystic;dysplastic kidneys;bile duct proliferation in liver;bilateral clubbed feet;hypoplastic lungs;flexion contractures;micrognathia;flat;beaked nose;lowset ears;short neck

text: Homo sapiens

text: Caucasian

text: Female

text: MKS

characteristic: tag

text: Meckel syndrome

text: GM07214 female affected Meckel syndrome sample

characteristic: title


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: 58 YR

text: B-Lymphocyte

text: NINDS Repository

characteristic: collection

text: identical twin

text: Homo sapiens

text: Caucasian

text: Female

text: ND12422 female unaffected Asymptomatic or undiagnosed and genetically related to an affected individual sample


characteristic: DNA id

text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: Digeorge syndrome

text: 3 DA

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Clinically affected;interrupted aortic arch;atrial septal defect;ventricular septal defect;thymic aplasia (radiographic);del(15) confirmed by FISH with probe N25 to the DGS critical region locus D22S75

text: 46;XX;del(22)(pter>q11.21::q11.23>qter);46;XX.arr 3q12.2(101822745-101924406)x4;22q11.21(17020299-19897219)x1

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: DGS

text: Digeorge syndrome

text: GM07215 female affected Digeorge syndrome sample


text: Coriell

text: live

text: Generic

text: 31 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12428

characteristic: description

characteristic: family id

text: unaffected spouse

text: Homo sapiens

text: Caucasian

characteristic: race

text: Male

text: Population/convenience control

text: ND12424 male unaffected Population/convenience control sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 25 FW

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: Cyclops;holoprosencephaly;proboscis;both parents have normal karyotypes

text: 46;XX;der(7)(7pter->7q36::3p22->3pter).ish der(7)(D3S4559+).arr 3p26.3p22.1(35332-43076249)x3;7q36.2q36.3(153200062-158812469)x1;46;XX;der(7)(7pter>7q36:: 3p21.3>3pter);46;XX;der(7)(7pter>7q36::3p21.3>3pter).ish der(7)t(3;7)(D3S4559+)

characteristic: karyotype

text: Homo sapiens

text: Caucasian

text: Female

text: Translocated chromosome

text: Holoprosencephaly

text: GM07216 female unaffected Holoprosencephaly sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 28 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: Type I bipolar illness;hyperthymic personality;generalized anxiety;multiple episodes of depression;3 episodes of mania;currently receiving Lithium;Haldol;Cogentin;& Thorazine;see GM07219 Fibroblast

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

characteristic: tag

text: GM07218 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

text: Amyotrophic lateral sclerosis 1

text: 72 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse is ND12424

text: proband

text: Homo sapiens

text: Caucasian

text: Female

text: Amyotrophic lateral sclerosis 1

text: ND12428 female affected Amyotrophic lateral sclerosis 1 sample

characteristic: title


text: Coriell

text: live

text: Generic

characteristic: NCBI submission model

text: 28 YR

characteristic: age

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: Type I bipolar illness;hyperthymic personality;generalized anxiety;multiple episodes of depression;3 episodes of mania;currently receiving Lithium;Haldol;Cogentin;and Thorazine;see GM07218 Lymphoid

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: GM07219 female affected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 52 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffectd spouse is ND12436

characteristic: description

characteristic: family id

text: proband

text: Homo sapiens

characteristic: organism

text: Caucasian

text: Female

text: Als panel upper-limb onset definite and probable als

text: Amyotrophic lateral sclerosis 1

text: ND12430 female affected ALS1 sample


text: Coriell

characteristic: INSDC first public

text: live

text: Generic

characteristic: NCBI submission package

text: 32 YR

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

text: At risk;see GM07221 Fibroblast;mother & 1 sister have type II bipolar illness;& 1 sister has minor depression

text: daughter

text: Homo sapiens

text: Caucasian

characteristic: race

text: Female

text: GM07220 female unaffected Major affective disorder - 125480 or 309200 sample


characteristic: External Id

text: Coriell

text: live

text: Generic

text: 32 YR

characteristic: cell line

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk;see GM07220 Lymphoid;mother & 1 sister have type II bipolar illness;& 1 sister has minor depression

text: daughter

text: Homo sapiens

text: Caucasian

text: Female

text: GM07221 female unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

text: live

text: Generic

text: 30 YR

text: B-Lymphocyte

characteristic: cell type

text: NIGMS Human Genetic Cell Repository

text: At risk;father (GM07154) has type I bipolar illness;see GM07223B Fibroblast

text: niece

text: Homo sapiens

text: Caucasian

text: Female

characteristic: sex

text: GM07222 female unaffected Major affective disorder - 125480 or 309200 sample


text: Coriell

characteristic: INSDC center name

text: live

text: Generic

text: 65 YR

text: B-Lymphocyte

text: NINDS Repository

text: Unaffected spouse of ND12439

text: proband

characteristic: gene

text: (GGGGCC)n EXPANSION

characteristic: mutation

text: Homo sapiens

text: Caucasian

text: Male

characteristic: tag

text: Als panel upper-limb onset probable and possible als

text: Amyotrophic lateral sclerosis 1

text: ND12438 male affected Ndpt116 - als panel: caucasians from north america upper-limb onset sample


text: Coriell

characteristic: INSDC last update

text: live

characteristic: INSDC status

text: Generic

characteristic: NCBI submission model

text: 30 YR

text: Fibroblast

text: NIGMS Human Genetic Cell Repository

text: At risk;father (GM07155) has type I bipolar illness;see GM07222 Lymphoid

text: niece

text: Homo sapiens

text: Caucasian

text: Female

text: GM07223 female unaffected Major affective disorder - 125480 or 309200 sample

characteristic: title


text: Coriell

text: live

text: Generic

text: 74 YR

characteristic: age

text: B-Lymphocyte

text: NIGMS Human Genetic Cell Repository

characteristic: collection

text: See GM07232 Fibroblast;clinically unaffected;two affected children;pedigree suggests recessive inheritance

characteristic: description

text: JEWISH

characteristic: ethnicity

characteristic: family id

text: father

text: Homo sapiens

text: Caucasian

text: Male

text: GM07231 male unaffected Retinitis pigmentosa - 180100, 268000 or 312600 sample