ID   GM28930
AC   CVCL_D2ZJ
SY   GM28930*B
DR   Coriell; GM28930
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 29331; EPG5; Simple_corrected; p.Gln336Arg (c.1007A>G); ClinVar=VCV000192333; Zygosity=Homozygous; Note=By CRISPR/Cas9 (Coriell=GM28930).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C138174; Vici syndrome
DI   ORDO; Orphanet_1493; Vici syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_VV62 ! GM27291
SX   Male
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 30-01-24; Version: 1
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