ID   SZ-CMT
AC   CVCL_YL11
SY   SZ-CMT PGD; CMT
DR   NIHhESC; NIHhESC-20-0461
DR   Wikidata; Q98132971
WW   Provider; SZMC; -; https://www.szmc.org.il/UploadFiles/12_2016/HESC.pdf
CC   From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0461.
CC   Sequence variation: Mutation; HGNC; HGNC:4283; GJB1; Simple; p.Arg75Trp (c.223C>T); ClinVar=VCV000021082; Zygosity=Heterozygous (NIHhESC=NIHhESC-20-0461).
CC   Miscellaneous: Sex of donor from personal communication of Eiges, Rachel.
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C129068; Charcot-Marie-Tooth neuropathy X type 1
DI   ORDO; Orphanet_101075; X-linked Charcot-Marie-Tooth disease type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 19-12-19; Last updated: 10-04-25; Version: 12
//