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Cellosaurus LOMARS pedigree sibling #1 LCL (CVCL_D7EQ)

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Cell line name LOMARS pedigree sibling #1 LCL
Accession CVCL_D7EQ
Resource Identification Initiative To cite this cell line use: LOMARS pedigree sibling #1 LCL (RRID:CVCL_D7EQ)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: Genomics; Whole genome sequencing.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4851; HTT; Simple; c.4463+1G>A; ClinVar=VCV000225541; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=33432339).
  • Mutation; HGNC; HGNC:4851; HTT; Simple; p.Phe2717Leu (c.8151T>A) (p.Phe2719Leu, c.8157>A); ClinVar=VCV000225542; Zygosity=Heterozygous (PubMed=33432339).
Disease Lopes-Maciel-Rodan syndrome (NCIt: C210872)
Non-specific syndromic intellectual disability (ORDO: Orphanet_528084)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 12Y
Category Transformed cell line
Publications

PubMed=33432339; DOI=10.1093/hmg/ddaa283; PMCID=PMC8248964
Roy Jung, Yejin Lee, Douglas Barker, Kevin Correia, Baehyun Shin, Jacob Loupe, Ryan Lewis Collins, Diane E. Lucente, Jayla Ruliera, Tammy Gillis, Jayalakshmi S. Mysore ...Show all 20 authors... , Lance Rodan, Jonathan Picker, Jong-Min Lee, David S. Howland, Ramee Lee, Seung Kwak, Marcy Elizabeth MacDonald, James Francis Gusella, Ihn Sik Seong; Show fewer authors
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.
Hum. Mol. Genet. 30:135-148(2021)

Entry history
Entry creation10-Sep-2024
Last entry update10-Apr-2025
Version number3