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Cellosaurus UAMi004-A-1 (CVCL_A1XD)

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Cell line name UAMi004-A-1
Synonyms PCCB10-FiPS4F-1-genetically corrected; UAMi006-A
Accession CVCL_A1XD
Resource Identification Initiative To cite this cell line use: UAMi004-A-1 (RRID:CVCL_A1XD)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Centro de Biologia Molecular Severo Ochoa, Universidad Autonoma de Madrid; Madrid; Spain.
Population: Caucasian.
Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:8654; PCCB; Simple_corrected; p.Gly407Argfs*14 (c.1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA) (c.1218_1231del14ins12); ClinVar=VCV000038875; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=33128956).
Disease Propionic acidemia (NCIt: C85030)
Propionic acidemia (ORDO: Orphanet_35)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_WT14 (UAMi004-A)
Sex of cell Female
Age at sampling 24Y
Category Induced pluripotent stem cell
Web pages Provider; BNLC; -; https://www.isciii.es/documents/20119/ed1fe370-9476-de16-b79d-82e23075a747
Publications

PubMed=33128956; DOI=10.1016/j.scr.2020.102055
Alejandro Fulgencio-Covian, Mar Alvarez, Barry A. Pepers, Aristides Lopez-Marquez, Magdalena Ugarte, Belen Perez, Willeke M.C. van Roon-Mom, Lourdes Ruiz Desviat, Eva Maria Richard Rodriguez;
Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology.
Stem Cell Res. 49:102055-102055(2020)

Cross-references
Cell line databases/resources hPSCreg; UAMi004-A-1
Encyclopedic resources Wikidata; Q105511313
Entry history
Entry creation12-Jan-2021
Last entry update10-Apr-2025
Version number7