Cellosaurus logo
expasy logo

Cellosaurus SZ-CMT (CVCL_YL11)

[Text version]
Cell line name SZ-CMT
Synonyms SZ-CMT PGD; CMT
Accession CVCL_YL11
Resource Identification Initiative To cite this cell line use: SZ-CMT (RRID:CVCL_YL11)
Comments From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0461.
Miscellaneous: Sex of donor from personal communication of Eiges, Rachel.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:4283; GJB1; Simple; p.Arg75Trp (c.223C>T); ClinVar=VCV000021082; Zygosity=Heterozygous (NIHhESC=NIHhESC-20-0461).
Disease Charcot-Marie-Tooth neuropathy X type 1 (NCIt: C129068)
X-linked Charcot-Marie-Tooth disease type 1 (ORDO: Orphanet_101075)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Blastocyst stage
Category Embryonic stem cell
Web pages https://www.szmc.org.il/UploadFiles/12_2016/HESC.pdf
Cross-references
Cell line databases/resources NIHhESC; NIHhESC-20-0461
Encyclopedic resources Wikidata; Q98132971
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number11