ID   JUCTCi018-C
AC   CVCL_C0J7
DR   hPSCreg; JUCTCi018-C
DR   Wikidata; Q112929916
CC   From: Cell Therapy Center, University of Jordan; Amman; Jordan.
CC   Population: Jordanian.
CC   Sequence variation: Mutation; HGNC; HGNC:7224; MPV17; Simple; p.Arg41Gln (c.122G>A); ClinVar=VCV000626263; Zygosity=Homozygous (from autologous cell line JUCTCi018-A).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C212863; Charcot-Marie-Tooth disease type 2EE
DI   ORDO; Orphanet_91024; Autosomal recessive axonal hereditary motor and sensory neuropathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C0J5 ! JUCTCi018-A
OI   CVCL_C0J6 ! JUCTCi018-B
SX   Female
AG   25Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 5
//