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Cellosaurus BCHi011-A-1 (CVCL_D6S0)

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Cell line name BCHi011-A-1
Synonyms HNDS0003-01 #F CC39 +/+
Accession CVCL_D6S0
Resource Identification Initiative To cite this cell line use: BCHi011-A-1 (RRID:CVCL_D6S0)
Comments From: Children's Hospital Boston; Boston; USA.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:408; ALDH5A1; Simple_corrected; p.Trp204Ter (c.612G>A); ClinVar=VCV000001357; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38677032).
  • Mutation; HGNC; HGNC:408; ALDH5A1; Simple_corrected; p.Arg412Ter (c.1234C>T); ClinVar=VCV000001358; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38677032).
Disease Succinic semialdehyde dehydrogenase deficiency (NCIt: C206527)
Succinic semialdehyde dehydrogenase deficiency (ORDO: Orphanet_22)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_D6RZ (BCHi011-A)
Sex of cell Male
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=38677032; DOI=10.1016/j.scr.2024.103424; PMCID=PMC11178435
Wardiya Afshar-Saber, Ci-Di Chen, Nicole A. Teaney, Kristina Kim, Zi-Qin Yang, Federico M. Gasparoli, Darius Ebrahimi-Fakhari, Elizabeth D. Buttermore, Ivy Pin-Fang Chen, Phillip Lawrence Pearl, Mustafa Sahin;
Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH deficiency and CRISPR-corrected isogenic controls.
Stem Cell Res. 77:103424-103424(2024)

Cross-references
Cell line databases/resources hPSCreg; BCHi011-A-1
Biological sample resources BioSamples; SAMEA115476588
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2