ID   AG27427
AC   CVCL_WU12
SY   AG27427*B
DR   Coriell; AG27427
DR   Wikidata; Q93323506
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Glu578Val (c.1733A>T); ClinVar=VCV000066863; Zygosity=Heterozygous (Coriell=AG27427).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3447; Werner syndrome
DI   ORDO; Orphanet_79474; Atypical Werner syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_U311 ! AG04110
SX   Female
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 10
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