ID   GM28477
AC   CVCL_C7ML
DR   Coriell; GM28477
DR   Wikidata; Q117704394
CC   Population: Jewish; Syrian.
CC   Sequence variation: Mutation; HGNC; HGNC:9081; PLOD1; Simple; p.Gly159Valfs*68 (c.476delG); Zygosity=Heterozygous (from familial inference of GM28475).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   34Y
CA   Finite cell line
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 3
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