ID   UCLi025-A
AC   CVCL_D6NT
SY   ABHD12 c.193C>T
DR   hPSCreg; UCLi025-A
WW   https://data.mendeley.com/datasets/knr3ctxj8d/1
CC   From: University College London; London; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 15868; ABHD12; Simple; p.Arg65Ter (c.193C>T); ClinVar=VCV000438130; Zygosity=Homozygous (hPSCreg=UCLi025-A).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C206116; Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
DI   ORDO; Orphanet_171848; Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   42Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//