Call for Submissions

jeanne beck jeanne_beck at
Sun Jan 12 19:40:30 EST 1997


The National Institute of General Medical Sciences (NIGMS) Human Genetic Mutant 
Cell Repository is requesting submission of blood samples or skin biopsies or 
cell cultures from probands who carry chromosomal abnormalities and have well 
documented phenotypes. Of interest to the Repository are phenotypically 
abnormal probands with apparently balanced de novo  chromosomal rearrangements, 
probands with balanced or unbalanced cryptic translocations, probands who are 
phenotypically abnormal due to uniparental disomy, and probands with small 
chromosomal deletions or duplications of any kind and especially those 
associated with the following syndromes: Angelman, Beckwith-Wiedemann, Charcot-
Marie-Tooth (Type 1A), DiGeorge, Langer-Giedeon, Kallmann, Miller-Dieker, 
Rubenstein-Taybi, Smith-Magenis, Wolf-Hirschhorn,.velocardiofacial, glycerol 
kinase deficiency, and adrenal hypoplasia congenita.

Investigators interested in submitting specimens are encouraged to contact
the NIGMS Repository to arrange for submission of specimens. 
        NIGMS Human Genetic Mutant Cell Repository
        Coriell Cell Repositories
        401 Haddon Avenue
        Camden, New Jersey  08103 
Telephone:  (800)-752-3805 within the United States and
            (609)-757-4848 from other countries
Fax:        (609)-757-9737
e-mail:     ccr at

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