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Cellosaurus CHOPi005-A (CVCL_B3NQ)

[Text version]
Cell line name CHOPi005-A
Synonyms LD0638.0A
Accession CVCL_B3NQ
Resource Identification Initiative To cite this cell line use: CHOPi005-A (RRID:CVCL_B3NQ)
Comments From: Children's Hospital of Philadelphia; Philadelphia; USA.
Population: Asian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 20774; TUBB4A; Simple; p.Asp249Asn (c.745G>A); ClinVar=VCV000050985; Zygosity=Heterozygous (PubMed=37003180).
Disease Hypomyelinating leukodystrophy-6 (NCIt: C183310)
Hypomyelination with atrophy of basal ganglia and cerebellum (ORDO: Orphanet_139441)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 9Y
Category Induced pluripotent stem cell
Publications

PubMed=37003180; DOI=10.1016/j.scr.2023.103083
Almad A.A., Garcia L., Takanohashi A., Gagne A.L., Yang W.-L., McGuire J.A., French D.L., Vanderver A.
Generation of three induced pluripotent stem cell lines from individuals with hypomyelination with atrophy of basal ganglia and cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A.
Stem Cell Res. 69:103083-103083(2023)

Cross-references
Cell line databases/resources hPSCreg; CHOPi005-A
Biological sample resources BioSamples; SAMEA9693917
Encyclopedic resources Wikidata; Q110432716
Entry history
Entry creation16-Dec-2021
Last entry update05-Oct-2023
Version number5