| Cell line name |
AP39P-iPSC#2 |
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| Accession |
CVCL_B5M4 |
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| Resource Identification Initiative |
To cite this cell line use: AP39P-iPSC#2 (RRID:CVCL_B5M4) |
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| Comments |
Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620. |
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| Sequence variations |
- Mutation; HGNC; HGNC:253; ADH5; Simple; c.564+1G>A (p.Leu188Profs*4); ClinVar=VCV000995826; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=33512438).
- Mutation; HGNC; HGNC:253; ADH5; Simple; p.Ala278Pro (c.832G>C); ClinVar=VCV000995827; Zygosity=Heterozygous (PubMed=33512438).
- Mutation; HGNC; HGNC:404; ALDH2; Simple; p.Glu504Lys (c.1510G>A) (p.Glu487Lys); ClinVar=VCV000018390; Zygosity=Heterozygous; Note=Allele ALDH2*2 (PubMed=33512438).
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| Disease |
AMeD syndrome (NCIt: C185246)
Aplastic anemia-intellectual disability-dwarfism syndrome (ORDO: Orphanet_611216) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Hierarchy |
Parent: CVCL_XD42 (AP39P) |
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| Sex of cell |
Female |
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| Age at sampling |
10Y |
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| Category |
Induced pluripotent stem cell |
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| Publications | PubMed=33512438; DOI=10.1182/blood.2020009111
An-Feng Mu, Asuka Hira, Akira Niwa, Mitsujiro Osawa, Kenichi Yoshida, Minako Mori, Yusuke Okamoto, Kazuko Inoue, Keita Kondo, Masato T. Kanemaki, Tomonari Matsuda ...Show all 19 authors... , Etsuro Ito, Seiji Kojima, Tatsutoshi Nakahata, Seishi Ogawa, Keigo Tanaka, Keitaro Matsuo, Megumu K. Saito, Minoru Takata; Show fewer authors
Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency.
Blood 137:2021-2032(2021) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q111732929
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| Entry history |
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| Entry creation | 17-Mar-2022 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 5 |
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